ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.3988del (p.Leu1330fs)

gnomAD frequency: 0.00001  dbSNP: rs757045433
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001869162 SCV002239077 pathogenic Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-03-30 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 633665). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CACNA1S-related conditions. This variant is present in population databases (rs757045433, gnomAD 0.009%). This sequence change creates a premature translational stop signal (p.Leu1330Trpfs*94) in the CACNA1S gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CACNA1S are known to be pathogenic (PMID: 26247046, 28012042).
Gharavi Laboratory, Columbia University RCV000782225 SCV000920712 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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