Submissions for variant NM_014000.3(VCL):c.660C>T (p.Asn220=)

gnomAD frequency: 0.00091  dbSNP: rs56264452

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038837	SCV000062515	benign	not specified	2021-09-24	criteria provided, single submitter	clinical testing	The p.Asn220Asn variant in VCL is classified as benign because it does not alter an amino acid residue, is not located within the splice consensus site, and computational splice prediction tools do not predict an impact on splicing. It has been identified in 0.14% (177/128886) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1, BP4, BP7.
GeneDx	RCV000038837	SCV000169789	benign	not specified	2014-03-31	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000233302	SCV000289920	benign	Dilated cardiomyopathy 1W	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000620177	SCV000736483	likely benign	Cardiovascular phenotype	2015-05-20	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001699110	SCV001156903	benign	not provided	2020-06-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000233302	SCV001260400	likely benign	Dilated cardiomyopathy 1W	2017-04-27	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003486568	SCV004240246	benign	Cardiomyopathy	2023-05-16	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001699110	SCV004700628	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	VCL: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics	RCV001699110	SCV005221223	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000038837	SCV001921815	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001699110	SCV001926486	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001699110	SCV001955136	likely benign	not provided		no assertion criteria provided	clinical testing