ClinVar Miner

Submissions for variant NM_001382567.1(STIM1):c.1439T>C (p.Met480Thr)

gnomAD frequency: 0.00001  dbSNP: rs762820296
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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 RCV001217266 SCV001389100 uncertain significance Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 2022-11-28 criteria provided, single submitter clinical testing 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 946404). This variant has not been reported in the literature in individuals affected with STIM1-related conditions. This variant is present in population databases (rs762820296, gnomAD 0.04%). This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 480 of the STIM1 protein (p.Met480Thr).
Revvity Omics, Revvity RCV003142162 SCV003818108 uncertain significance not provided 2021-08-19 criteria provided, single submitter clinical testing

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