Submissions for variant NM_014000.3(VCL):c.2801C>T (p.Ala934Val)

gnomAD frequency: 0.00658  dbSNP: rs16931179

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000126282	SCV000051510	likely benign	not provided	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038816	SCV000062494	benign	not specified	2012-04-03	criteria provided, single submitter	clinical testing	Ala934Val in exon 19 of VCL: This variant is not expected to have clinical signi ficance because it has been identified in 2.5% (54/2160) chromosomes from a broa d, though clinically unspecified population (dbSNP rs16931179; 1000 Genomes proj ect).
GeneDx	RCV000038816	SCV000169783	benign	not specified	2012-10-03	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences	RCV000038816	SCV000312012	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000242411	SCV000317741	benign	Cardiovascular phenotype	2015-06-19	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Illumina Laboratory Services, Illumina	RCV000458558	SCV000364941	likely benign	Dilated cardiomyopathy 1W	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000458558	SCV000559711	benign	Dilated cardiomyopathy 1W	2025-02-04	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000038816	SCV000702980	benign	not specified	2016-11-17	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769116	SCV000900490	benign	Cardiomyopathy	2015-11-19	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000126282	SCV001470735	benign	not provided	2020-04-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000126282	SCV005221229	likely benign	not provided		criteria provided, single submitter	not provided
GenomeConnect, ClinGen	RCV000709873	SCV000840210	not provided	Dilated cardiomyopathy 1W; Hypertrophic cardiomyopathy 15		no assertion provided	phenotyping only	GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Clinical Genetics, Academic Medical Center	RCV000038816	SCV001921817	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000038816	SCV001932424	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000126282	SCV001958842	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000038816	SCV001975348	benign	not specified		no assertion criteria provided	clinical testing