ClinVar Miner

Submissions for variant NM_001382567.1(STIM1):c.869_887del (p.Ile290fs)

dbSNP: rs751733169
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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 RCV001907839 SCV002132166 pathogenic Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 2023-10-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile290Lysfs*5) 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). This variant is present in population databases (rs751733169, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with STIM1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1365102). For these reasons, this variant has been classified as Pathogenic.

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