Submissions for variant NM_014000.3(VCL):c.1572C>T (p.Ala524=)

gnomAD frequency: 0.00086  dbSNP: rs138566234

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038800	SCV000062478	likely benign	not specified	2012-02-07	criteria provided, single submitter	clinical testing	Ala524Ala in exon 12 of VCL: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue, is not located within t he splice consensus sequence, and has been identified in 0.1% (5/3738) of Africa n American chromosomes by the NHLBI Exome Sequencing Project in a broad populati on (http://evs.gs.washington.edu/EVS; dbSNP rs138566234). Ala524Ala in exon 12 of VCL (rs138566234; allele frequency = 0.1%, 5/3738) **
GeneDx	RCV001529777	SCV000515244	likely benign	not provided	2020-09-17	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24503780)
Invitae	RCV000547966	SCV000645843	benign	Dilated cardiomyopathy 1W	2024-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001529777	SCV002048201	benign	not provided	2021-04-06	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000038800	SCV002548472	benign	not specified	2022-05-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002390163	SCV002703567	likely benign	Cardiovascular phenotype	2016-06-08	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.
Fulgent Genetics, Fulgent Genetics	RCV002496621	SCV002811254	likely benign	Dilated cardiomyopathy 1W; Hypertrophic cardiomyopathy 15	2021-08-09	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003914953	SCV004746087	likely benign	VCL-related disorder	2019-02-20	criteria provided, single submitter	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).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529777	SCV001743840	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000038800	SCV001921273	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001529777	SCV001974245	likely benign	not provided		no assertion criteria provided	clinical testing