ClinVar Miner

Submissions for variant NM_001382567.1(STIM1):c.853A>G (p.Lys285Glu)

gnomAD frequency: 0.00002  dbSNP: rs1474279628
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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 RCV001307107 SCV001496502 uncertain significance Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 2022-07-25 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: 1009594). This variant has not been reported in the literature in individuals affected with STIM1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.03%). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 285 of the STIM1 protein (p.Lys285Glu).

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