ClinVar Miner

Submissions for variant NM_001382567.1(STIM1):c.710C>T (p.Ser237Phe)

dbSNP: rs751364519
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001872690 SCV002142739 uncertain significance Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 2022-07-12 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1372035). This variant has not been reported in the literature in individuals affected with STIM1-related conditions. This variant is present in population databases (rs751364519, gnomAD 0.0009%). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 237 of the STIM1 protein (p.Ser237Phe). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0").
PreventionGenetics, part of Exact Sciences RCV004749757 SCV005349689 uncertain significance STIM1-related disorder 2024-08-01 no assertion criteria provided clinical testing The STIM1 c.710C>T variant is predicted to result in the amino acid substitution p.Ser237Phe. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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