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]
  • See Evidence submitted by expert panel for details.

Variant: NM_000527.5(LDLR):c.970G>T (p.Gly324Cys)

CA404082654

920048 (ClinVar)

Gene: LDLR
Condition: hypercholesterolemia, familial
Inheritance Mode: Semidominant inheritance
Link to MONDO
UUID: 89306640-324f-4241-9046-eb094a499f90
Approved on: 2022-02-09
Published on: 2022-04-25

HGVS expressions

NM_000527.5:c.970G>T
NM_000527.5(LDLR):c.970G>T (p.Gly324Cys)
NC_000019.10:g.11110681G>T
CM000681.2:g.11110681G>T
NC_000019.9:g.11221357G>T
CM000681.1:g.11221357G>T
NC_000019.8:g.11082357G>T
NG_009060.1:g.26301G>T
ENST00000558518.6:c.970G>T
ENST00000252444.9:n.1224G>T
ENST00000455727.6:c.466G>T
ENST00000535915.5:c.847G>T
ENST00000545707.5:c.589G>T
ENST00000557933.5:c.970G>T
ENST00000558013.5:c.970G>T
ENST00000558518.5:c.970G>T
ENST00000560467.1:n.541-833G>T
NM_000527.4:c.970G>T
NM_001195798.1:c.970G>T
NM_001195799.1:c.847G>T
NM_001195800.1:c.466G>T
NM_001195803.1:c.589G>T
NM_001195798.2:c.970G>T
NM_001195799.2:c.847G>T
NM_001195800.2:c.466G>T
NM_001195803.2:c.589G>T
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Uncertain Significance

Met criteria codes 2
PM2 PP3
Not Met criteria codes 1
PM5

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Familial Hypercholesterolemia VCEP
The NM_000527.5 (LDLR): c.970G>T (p.Gly324Cys) variant is classified as Uncertain significance -insufficient evidence for Familial Hypercholesterolemia by applying evidence codes (PM2, 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 Met: This variant is absent in gnomAD (gnomAD v2.1.1). PP3 Met: REVEL = 0.865, which is above the threshold of 0.75. There is one other variant in the same codon: LDLR: NM_000527:c.970G>T, (p.Gly324Ser) which is classified as Benign by these guidelines. Therefore PM5 is not met.
Met criteria codes
PM2
This variant is absent in gnomAD (gnomAD v2.1.1).
PP3
REVEL = 0.865, which is above the threshold of 0.75.
Not Met criteria codes
PM5
There is one other variant in the same codon: LDLR: NM_000527:c.970G>T, (p.Gly324Ser) which is classified as Benign by these guidelines. Therefore PM5 is not met.
Curation History
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