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 ClinVar but not with the Allele Registry data


Variant: NM_000527.5(LDLR):c.919G>T (p.Asp307Tyr)

441199 (ClinVar)

Gene: LDLR
Condition: hypercholesterolemia, familial
Inheritance Mode: Semidominant inheritance
UUID: d46152b6-d5e3-4010-acf5-8de2a53d4222
Approved on: 2023-06-23
Published on: 2023-07-28

HGVS expressions

NM_000527.5:c.919G>T
NM_000527.5(LDLR):c.919G>T (p.Asp307Tyr)

Uncertain Significance

Met criteria codes 2
PP3 PM2
Not Met criteria codes 2
PP4 PM5

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

Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
Familial Hypercholesterolemia VCEP
The NM_000527.5(LDLR):c.919G>T (p.Asp307Tyr) variant is classified as VUS 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). PM2: This variant is absent from gnomAD (gnomAD v2.1.1). PP3: REVEL = 0.967.
Met criteria codes
PP3
REVEL = 0.967.
PM2
This variant is absent from gnomAD (gnomAD v2.1.1).
Not Met criteria codes
PP4
Could not find any cases with the variant.
PM5
Two other missense variants in the same codon: - NM_000527.5(LDLR):c.920A>G (p.Asp307Gly) - NM_000527.5(LDLR):c.919G>A (p.Asp307Asn) - Likely Pathogenic by these guidelines There are two variants in the same codon classified as Likely Pathogenic (minimum 2) by these guidelines.
Curation History
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