ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.1189_1190del (p.Ser397fs)

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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 RCV003778912 SCV004569685 pathogenic Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-04-24 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with autosomal recessive congenital myopathy (PMID: 28012042). For these reasons, this variant has been classified as Pathogenic. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Ser397Profs*3) 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).
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire RCV004587472 SCV005038535 pathogenic Centronuclear myopathy 2024-03-01 criteria provided, single submitter research PVS1+PS3+PM2+PP3
OMIM RCV003152508 SCV003841102 pathogenic Congenital myopathy 18 2024-07-16 no assertion criteria provided literature only

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