Submissions for variant NM_000527.5(LDLR):c.1977C>A (p.Thr659=)

gnomAD frequency: 0.00032  dbSNP: rs72658866

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
LDLR-LOVD, British Heart Foundation	RCV000238020	SCV000295788	likely benign	Hypercholesterolemia, familial, 1	2016-03-25	criteria provided, single submitter	literature only
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge	RCV000238020	SCV000322994	likely benign	Hypercholesterolemia, familial, 1	2016-03-01	criteria provided, single submitter	research	0/95 non-FH individuals
Fundacion Hipercolesterolemia Familiar	RCV000238020	SCV000607660	likely benign	Hypercholesterolemia, familial, 1	2016-03-01	criteria provided, single submitter	research
GeneDx	RCV001722277	SCV000721078	likely benign	not provided	2018-07-12	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26020417, 30333156)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000776112	SCV000752446	benign	Familial hypercholesterolemia	2025-01-29	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000776112	SCV000910985	likely benign	Familial hypercholesterolemia	2017-06-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002418058	SCV002719012	likely benign	Cardiovascular phenotype	2023-06-01	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003323476	SCV004028779	likely benign	not specified	2023-07-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001722277	SCV004033642	likely benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	LDLR: BP4, BP7
All of Us Research Program, National Institutes of Health	RCV000238020	SCV004818476	likely benign	Hypercholesterolemia, familial, 1	2024-02-05	criteria provided, single submitter	clinical testing
GENinCode PLC	RCV000776112	SCV005441735	likely benign	Familial hypercholesterolemia	2023-02-03	criteria provided, single submitter	clinical testing	This is a synonymous (silent) variant that is not predicted to impact splicing and occurs at a nucleotide which is not conserved. Therefore this variant has been classified as Likely Benign (BP4, BP7).
PreventionGenetics, part of Exact Sciences	RCV003977703	SCV004789031	likely benign	LDLR-related disorder	2024-02-19	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).