ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.498C>T (p.Ala166=)

gnomAD frequency: 0.00153  dbSNP: rs10417394
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel RCV000349498 SCV005375279 likely benign Hypercholesterolemia, familial, 1 2024-08-30 reviewed by expert panel curation The NM_000527.5(LDLR):c.498C>T (p.Ala166=) variant is classified as Likely Benign for Familial Hypercholesterolemia by applying ACMG/AMP evidence codes BS1, BP4 and BP7 as defined by the ClinGen Familial Hypercholesterolemia Expert Panel LDLR-specific variant curation guidelines (spcification version 1.2) on 30 August 2024. The supporting evidence is as follows: BS1: FAF=0.004221 (0.42%) in African/African American exomes + genomes (gnomAD v4.1.0). BP4: No REVEL, splicing evaluation required. Functional data on splicing not available. A) not on limits. B) does not create a GT. C) there is a GT nearby. MES scores: variant cryptic = -2.92, wt cryptic = -2.92, canonical donor = 7.67. Cryptic scores are negative, so cryptic site is not used - variant is not predicted to alter splicing. BP7: Variant is synonymous and meets BP4.
Illumina Laboratory Services, Illumina RCV000349498 SCV000410527 uncertain significance Hypercholesterolemia, familial, 1 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000775040 SCV000627038 benign Familial hypercholesterolemia 2024-02-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000775040 SCV000909137 benign Familial hypercholesterolemia 2017-07-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002338917 SCV002643527 likely benign Cardiovascular phenotype 2017-12-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477895 SCV004219984 benign not provided 2023-03-07 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000349498 SCV000606134 benign Hypercholesterolemia, familial, 1 no assertion criteria provided research
Natera, Inc. RCV000775040 SCV002086366 likely benign Familial hypercholesterolemia 2019-10-25 no assertion criteria provided clinical testing

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