ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.1204G>T (p.Ala402Ser)

gnomAD frequency: 0.00002  dbSNP: rs756022224
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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 RCV001903346 SCV002161477 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-09-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478296 SCV002777635 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 2021-09-12 criteria provided, single submitter clinical testing
GeneDx RCV003314707 SCV004014158 uncertain significance not provided 2023-07-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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