Submissions for variant NM_014000.3(VCL):c.120C>T (p.Leu40=)

dbSNP: rs144080529

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000152639	SCV000201972	benign	not specified	2010-02-19	criteria provided, single submitter	clinical testing	Leu40Leu in Exon 01 of VCL: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue, is not located within th e splice consensus sequence and has been identified in 0.4% (16/3694) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Proj ect (http://evs.gs.washington.edu/EVS; dbSNP rs144080529).
GeneDx	RCV000152639	SCV000236467	benign	not specified	2014-11-05	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	RCV000229250	SCV000289902	likely benign	Dilated cardiomyopathy 1W	2024-01-31	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770290	SCV000901722	benign	Cardiomyopathy	2017-02-16	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000152639	SCV001363188	likely benign	not specified	2019-11-23	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001727602	SCV002049173	likely benign	not provided	2021-05-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002354354	SCV002653429	likely benign	Cardiovascular phenotype	2018-02-13	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.
CeGaT Center for Human Genetics Tuebingen	RCV001727602	SCV004126791	benign	not provided	2022-05-01	criteria provided, single submitter	clinical testing	VCL: BS1, BS2
Clinical Genetics, Academic Medical Center	RCV000152639	SCV001924409	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001727602	SCV001974214	likely benign	not provided		no assertion criteria provided	clinical testing