ClinVar Miner

Submissions for variant NM_003476.5(CSRP3):c.16G>A (p.Gly6Arg)

gnomAD frequency: 0.00006  dbSNP: rs185980145
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150370 SCV000197500 uncertain significance not specified 2014-10-06 criteria provided, single submitter clinical testing The p.Gly6Arg variant in CSRP3 has not been previously reported in individuals w ith cardiomyopathy, but has been identified in 1/8586 European American chromoso mes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/) an d in 1.0% (2/200) of Southern Han Chinese chromosomes by the 1000 Genomes Projec t (dbSNP rs185980145). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summa ry, the clinical significance of the p.Gly6Arg variant is uncertain.
Invitae RCV001082041 SCV000541635 likely benign Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M 2024-01-09 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000623694 SCV000740562 uncertain significance Primary familial hypertrophic cardiomyopathy 2016-07-28 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770315 SCV000901748 likely benign Cardiomyopathy 2018-07-17 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000788865 SCV000928137 uncertain significance not provided 2018-12-23 criteria provided, single submitter clinical testing
GeneDx RCV000788865 SCV001996964 uncertain significance not provided 2019-12-16 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar (ClinVar Variant ID# 163013; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 31983221)
Ambry Genetics RCV002408664 SCV002715487 likely benign Cardiovascular phenotype 2018-11-01 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.

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