ClinVar Miner

Submissions for variant NM_001382567.1(STIM1):c.473A>C (p.Gln158Pro)

dbSNP: rs899854132
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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 RCV002234002 SCV000758376 uncertain significance Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 2020-06-15 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with proline at codon 158 of the STIM1 protein (p.Gln158Pro). The glutamine residue is moderately conserved and there is a moderate physicochemical difference between glutamine and proline. This variant has not been reported in the literature in individuals with STIM1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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