ClinVar Miner

Submissions for variant NM_014000.3(VCL):c.1756C>T (p.Arg586Trp)

gnomAD frequency: 0.00002  dbSNP: rs770778046
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001916834 SCV002193754 uncertain significance Dilated cardiomyopathy 1W 2023-01-18 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1421261). This variant has not been reported in the literature in individuals affected with VCL-related conditions. This variant is present in population databases (rs770778046, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 586 of the VCL protein (p.Arg586Trp).
GeneDx RCV002265047 SCV002547201 uncertain significance not provided 2022-01-11 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26191084)
Ambry Genetics RCV004044100 SCV005026006 likely benign Cardiovascular phenotype 2024-01-29 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.

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