Submissions for variant NM_014000.3(VCL):c.366G>A (p.Leu122=)

gnomAD frequency: 0.00029  dbSNP: rs199562976

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038830	SCV000062508	likely benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	Leu122Leu in exon 3 of VCL: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 2/7020 European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS). Leu122Leu in exon 3 of VCL (allele frequency = 2/7020) **
GeneDx	RCV000038830	SCV000169788	benign	not specified	2014-05-05	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.
Invitae	RCV001079225	SCV000559708	likely benign	Dilated cardiomyopathy 1W	2024-01-24	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000038830	SCV001433274	likely benign	not specified	2019-09-17	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798124	SCV002043478	likely benign	Cardiomyopathy	2020-06-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002453318	SCV002613664	likely benign	Cardiovascular phenotype	2019-03-19	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Clinical Genetics, Academic Medical Center	RCV000038830	SCV001924933	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000457126	SCV001955209	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000457126	SCV001973745	likely benign	not provided		no assertion criteria provided	clinical testing