Submissions for variant NM_014000.3(VCL):c.2142C>T (p.Asp714=)

gnomAD frequency: 0.00009  dbSNP: rs373790383

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001088312	SCV000559712	likely benign	Dilated cardiomyopathy 1W	2024-12-16	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000599879	SCV000710974	likely benign	not specified	2017-09-12	criteria provided, single submitter	clinical testing	p.Asp714Asp in Exon 16 of VCL: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence. It has been identified in 18/126488 European chr omosomes by the Genome Aggregation Database Project (gnomAD, http://gnomad.broad institute.org; dbSNP rs373790383).
GeneDx	RCV000465519	SCV000729525	likely benign	not provided	2020-09-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002431358	SCV002730101	likely benign	Cardiovascular phenotype	2021-06-28	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	RCV000599879	SCV004240849	benign	not specified	2023-12-11	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000599879	SCV006067028	likely benign	not specified	2025-04-09	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003960082	SCV004767174	likely benign	VCL-related disorder	2019-07-16	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).