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]
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Variant: NM_000527.5(LDLR):c.1577C>T (p.Pro526Leu)

CA404086610

431531 (ClinVar)

Gene: LDLR
Condition: hypercholesterolemia, familial
Inheritance Mode: Semidominant inheritance
Link to MONDO
UUID: 56a69abc-eb8b-47de-9473-4dd3b351cbcc

HGVS expressions

NM_000527.5:c.1577C>T
NM_000527.5(LDLR):c.1577C>T (p.Pro526Leu)
NC_000019.10:g.11113753C>T
CM000681.2:g.11113753C>T
NC_000019.9:g.11224429C>T
CM000681.1:g.11224429C>T
NC_000019.8:g.11085429C>T
NG_009060.1:g.29373C>T
ENST00000558518.6:c.1577C>T
ENST00000252444.9:n.1831C>T
ENST00000455727.6:c.1073C>T
ENST00000535915.5:c.1454C>T
ENST00000545707.5:c.1196C>T
ENST00000557933.5:c.1577C>T
ENST00000558013.5:c.1577C>T
ENST00000558518.5:c.1577C>T
ENST00000559340.1:n.298C>T
NM_000527.4:c.1577C>T
NM_001195798.1:c.1577C>T
NM_001195799.1:c.1454C>T
NM_001195800.1:c.1073C>T
NM_001195803.1:c.1196C>T
NM_001195798.2:c.1577C>T
NM_001195799.2:c.1454C>T
NM_001195800.2:c.1073C>T
NM_001195803.2:c.1196C>T

Uncertain Significance

Met criteria codes 2
PP3 PM2
Not Met criteria codes 24
BA1 PVS1 BS2 BS4 BS3 BS1 BP2 BP3 BP4 BP1 BP5 BP7 PS2 PS4 PS3 PS1 PP4 PP1 PP2 PM3 PM1 PM4 PM5 PM6

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Familial Hypercholesterolemia VCEP
NM_000527.5(LDLR):c.1577C>T (p.Pro526Leu) variant is classified as variant of Uncertain significance for Familial Hypercholesterolemia by applying evidence codes (PM2 and PP3) as defined by the ClinGen Familial Hypercholesterolemia Expert Panel LDLR-specific variant curation guidelines (https://doi.org/10.1016/j.gim.2021.09.012). The supporting evidence is as follows: PM2 - This variant is absent from gnomAD (gnomAD v2.1.1). PP3 - REVEL = 0.951
Met criteria codes
PP3
REVEL = 0.951
PM2
This variant is absent from gnomAD (gnomAD v2.1.1).
Not Met criteria codes
BA1
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
BS2
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
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
BP4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP1
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
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
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
PP2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
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
Approved on: 2022-01-18
Published on: 2022-06-30
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