Submissions for variant NM_014000.3(VCL):c.404T>C (p.Ile135Thr)

gnomAD frequency: 0.00006  dbSNP: rs373744314

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000172496	SCV000054747	uncertain significance	not provided	2013-06-24	criteria provided, single submitter	research
Labcorp Genetics (formerly Invitae), Labcorp	RCV001087335	SCV000645867	likely benign	Dilated cardiomyopathy 1W	2023-12-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000620510	SCV000736203	likely benign	Cardiovascular phenotype	2020-06-01	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770292	SCV000901724	uncertain significance	Cardiomyopathy	2016-03-07	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001087335	SCV001264556	benign	Dilated cardiomyopathy 1W	2017-07-20	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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
GeneDx	RCV000172496	SCV001801892	likely benign	not provided	2019-08-12	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23861362)
PreventionGenetics, part of Exact Sciences	RCV003965236	SCV004784376	likely benign	VCL-related disorder	2020-09-11	no assertion criteria provided	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).