ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.4967del (p.Leu1656fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002942823 SCV003272004 pathogenic Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-03-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 2061561). This premature translational stop signal has been observed in individual(s) with clinical features of autosomal recessive CACNA1S-related conditions (PMID: 28012042). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu1656Argfs*67) 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).
OMIM RCV003222451 SCV003841101 pathogenic Congenital myopathy 18 2023-03-10 no assertion criteria provided literature only

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