ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.4962C>T (p.Asn1654=)

gnomAD frequency: 0.00008  dbSNP: rs370339547
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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 RCV000651234 SCV000773085 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-10-26 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003517256 SCV004360325 likely benign Malignant hyperthermia, susceptibility to, 5 2022-11-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003953180 SCV004768400 likely benign CACNA1S-related disorder 2020-03-03 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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