Submissions for variant NM_000527.5(LDLR):c.858C>T (p.Ser286=)

gnomAD frequency: 0.00116  dbSNP: rs140241383

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV000771222	SCV000903316	likely benign	Familial hypercholesterolemia	2017-07-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000771222	SCV001003868	benign	Familial hypercholesterolemia	2025-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000508853	SCV001285930	uncertain significance	Hypercholesterolemia, familial, 1	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001584226	SCV001821337	likely benign	not specified	2021-08-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002446988	SCV002676348	likely benign	Cardiovascular phenotype	2016-11-16	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.
CeGaT Center for Human Genetics Tuebingen	RCV001706654	SCV003918062	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	LDLR: BP4, BP7
All of Us Research Program, National Institutes of Health	RCV000508853	SCV004820224	likely benign	Hypercholesterolemia, familial, 1	2024-02-05	criteria provided, single submitter	clinical testing
GENinCode PLC	RCV000771222	SCV005619964	likely benign	Familial hypercholesterolemia	2025-01-07	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 highly conserved. In addition, it has a PopMax FAF which is greater than expected for this disorder. This variant has been classified as Likely Benign (BS1, BP4, BP7).
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum	RCV000508853	SCV000606250	benign	Hypercholesterolemia, familial, 1		no assertion criteria provided	research
Clinical Genetics, Academic Medical Center	RCV001706654	SCV001925624	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001706654	SCV001975781	likely benign	not provided		no assertion criteria provided	clinical testing