Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
  • Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data

Variant: NM_000527.5(LDLR):c.1800G>C (p.Glu600Asp)

CA404089805

431535 (ClinVar)

Gene: LDLR
Condition: hypercholesterolemia, familial
Inheritance Mode: Semidominant inheritance
Link to MONDO
UUID: 60792a3f-4467-42cd-a65f-92f2e4aac0b2
Approved on: 2023-05-04
Published on: 2025-02-13

HGVS expressions

NM_000527.5:c.1800G>C
NM_000527.5(LDLR):c.1800G>C (p.Glu600Asp)
NC_000019.10:g.11116953G>C
CM000681.2:g.11116953G>C
NC_000019.9:g.11227629G>C
CM000681.1:g.11227629G>C
NC_000019.8:g.11088629G>C
NG_009060.1:g.32573G>C
ENST00000252444.10:c.2058G>C
ENST00000559340.2:c.1705+741G>C
ENST00000560467.2:c.1680G>C
ENST00000558518.6:c.1800G>C
ENST00000252444.9:c.2054G>C
ENST00000455727.6:c.1296G>C
ENST00000535915.5:c.1677G>C
ENST00000545707.5:c.1419G>C
ENST00000557933.5:c.1800G>C
ENST00000558013.5:c.1800G>C
ENST00000558518.5:c.1800G>C
ENST00000559340.1:c.426+741G>C
NM_000527.4:c.1800G>C
NM_001195798.1:c.1800G>C
NM_001195799.1:c.1677G>C
NM_001195800.1:c.1296G>C
NM_001195803.1:c.1419G>C
NM_001195798.2:c.1800G>C
NM_001195799.2:c.1677G>C
NM_001195800.2:c.1296G>C
NM_001195803.2:c.1419G>C
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Uncertain Significance

Met criteria codes 1
PM2
Not Met criteria codes 25
PM3 PM1 PM4 PM5 PM6 PVS1 BA1 BS4 BS3 BS1 BS2 BP5 BP7 BP4 BP1 BP2 BP3 PS2 PS4 PS3 PS1 PP3 PP2 PP4 PP1

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specification: ClinGen Familial Hypercholesterolemia Expert Panel Specifications to the ACMG/AMP Variant Classification Guidelines Version 1.2

PDF
Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
Familial Hypercholesterolemia VCEP
The NM_000527.5(LDLR):c.1800G>C (p.Glu600Asp) variant is classified as Uncertain significance - insufficient evidence for Familial Hypercholesterolemia by applying ACMG/AMP evidence code PM2 as defined by the ClinGen Familial Hypercholesterolemia Expert Panel LDLR-specific variant curation guidelines (specifications version 1.2) on 4 May 2023. The supporting evidence is as follows: PM2 - This variant is absent from gnomAD (gnomAD v2.1.1).
Met criteria codes
PM2
This variant is absent from gnomAD (gnomAD v2.1.1).
Not Met criteria codes
PM3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM5
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM6
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PVS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BA1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP5
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP7
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP4
REVEL: 0.632
BP1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP3
REVEL: 0.632, it is not above 0.75, splicing evaluation required. Functional data on splicing not available. Scenario A, Acceptor site: The variant is not located at -20 to +3 bases of canonical acceptor splicing site of any exons. Scenario A, Donor site: The variant is not located at -3 to +6 bases of canonical splicing site of any exons. Scenario B, Acceptor site: The variant is not located within the range and does not create de novo AG site. Scenario B, Donor site: The variant is located within range but does not create de novo GT site. Scenario C, Acceptor site: The variant is located at -20 to +3 bases of intraexonic AG but AG is not within the range. Scenario C, Donor site: The variant is not located at -3 to +6 bases of intraexonic GT Interpretation: The variant does not affect splicing
PP2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
Curation History
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