ClinVar Miner

Submissions for variant NM_001382567.1(STIM1):c.1189del (p.Ala397fs)

dbSNP: rs2133224258
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001956050 SCV002239121 pathogenic Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 2021-03-27 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with STIM1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ala397Profs*9) in the STIM1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in STIM1 are known to be pathogenic (PMID: 19420366, 20876309). For these reasons, this variant has been classified as Pathogenic.

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