ClinVar Miner

Submissions for variant NM_001382567.1(STIM1):c.262A>G (p.Ser88Gly)

dbSNP: rs2135736648
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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 RCV001891483 SCV002159057 likely pathogenic Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 2022-08-16 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1395833). This missense change has been observed in individual(s) with clinical features of autosomal dominant STIM1-related conditions (PMID: 28624464; Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 88 of the STIM1 protein (p.Ser88Gly).
Clinical Genetics Laboratory, Skane University Hospital Lund RCV004697156 SCV005196853 likely pathogenic not provided 2022-05-27 criteria provided, single submitter clinical testing
Laboratory of Molecular Genetics, Hospital Puerta de Hierro-Majadahonda RCV002287513 SCV002569143 pathogenic Stormorken syndrome 2022-09-05 no assertion criteria provided clinical testing

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