ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5729G>A (p.Arg1910Gln)

gnomAD frequency: 0.00007  dbSNP: rs190288386
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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 RCV000531826 SCV000627574 likely benign Long QT syndrome 2024-12-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002350180 SCV002650206 likely benign Cardiovascular phenotype 2020-01-27 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 RCV003419923 SCV004116418 uncertain significance CACNA1C-related disorder 2022-10-16 criteria provided, single submitter clinical testing The CACNA1C c.5729G>A variant is predicted to result in the amino acid substitution p.Arg1910Gln. This variant was reported in a study of ion channel-related genes in individuals with autism spectrum disorder (Supplementary Table 1, Lee et al 2021. PubMed ID: 34712263). This variant is reported in 0.097% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/12-2795380-G-A). 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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