ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.4565A>G (p.Lys1522Arg)

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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 RCV003069764 SCV003470002 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-01-13 criteria provided, single submitter clinical testing
GeneDx RCV004721111 SCV005327365 uncertain significance not provided 2024-03-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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