ClinVar Miner

Submissions for variant NM_001382567.1(STIM1):c.1805A>G (p.Lys602Arg)

dbSNP: rs1554972161
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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 RCV002231370 SCV000634540 uncertain significance Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 2020-01-15 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. 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. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an STIM1-related disease. This sequence change replaces lysine with arginine at codon 571 of the STIM1 protein (p.Lys571Arg). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and arginine.

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