ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.1783G>A (p.Val595Ile)

gnomAD frequency: 0.00018  dbSNP: rs201392574
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000170745 SCV000223298 uncertain significance not provided 2019-11-15 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance and a likely benign variant (ClinVar Variant ID 190611; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Invitae RCV000471623 SCV000562867 likely benign Long QT syndrome 2024-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621118 SCV000737457 likely benign Cardiovascular phenotype 2019-01-14 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.
PreventionGenetics, part of Exact Sciences RCV003947452 SCV004757654 uncertain significance CACNA1C-related disorder 2024-02-14 criteria provided, single submitter clinical testing The CACNA1C c.1783G>A variant is predicted to result in the amino acid substitution p.Val595Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.088% of alleles in individuals of European (Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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