ClinVar Miner

Submissions for variant NM_001382567.1(STIM1):c.1674G>A (p.Met558Ile)

gnomAD frequency: 0.00002  dbSNP: rs146111967
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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 RCV002233524 SCV000818169 uncertain significance Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 2021-01-15 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with STIM1-related disease. This variant is present in population databases (rs146111967, ExAC 0.01%). This sequence change replaces methionine with isoleucine at codon 527 of the STIM1 protein (p.Met527Ile). The methionine residue is weakly conserved and there is a small physicochemical difference between methionine and isoleucine.

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