Submissions for variant NM_000527.5(LDLR):c.681C>T (p.Asp227=)

gnomAD frequency: 0.00006  dbSNP: rs121908028

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV001180057	SCV001344906	likely benign	Familial hypercholesterolemia	2017-07-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001180057	SCV001637685	likely benign	Familial hypercholesterolemia	2024-01-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002367702	SCV002664182	likely benign	Cardiovascular phenotype	2022-08-03	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.
All of Us Research Program, National Institutes of Health	RCV000508876	SCV004820197	likely benign	Hypercholesterolemia, familial, 1	2023-12-18	criteria provided, single submitter	clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum	RCV000508876	SCV000606199	benign	Hypercholesterolemia, familial, 1		no assertion criteria provided	research
PreventionGenetics, part of Exact Sciences	RCV003942664	SCV004761629	likely benign	LDLR-related disorder	2019-03-28	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).