ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.2317A>G (p.Ile773Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002895751 SCV003250484 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-08-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004750783 SCV005348103 uncertain significance CACNA1S-related disorder 2024-05-02 no assertion criteria provided clinical testing The CACNA1S c.2317A>G variant is predicted to result in the amino acid substitution p.Ile773Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.033% of alleles in individuals of South Asian 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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