ClinVar Miner

Submissions for variant NM_003156.3(STIM1):c.1588C>T (p.Arg530Cys) (rs142239530)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532168 SCV000634538 uncertain significance Myopathy with tubular aggregates; Stormorken syndrome; Immune dysfunction with T-cell inactivation due to calcium entry defect 2 2018-10-25 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 530 of the STIM1 protein (p.Arg530Cys). The arginine residue is weakly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs142239530, ExAC 0.008%). 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: "Benign"; Align-GVGD: "Class C15"). 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.
Undiagnosed Diseases Network,NIH RCV000626054 SCV000746676 likely pathogenic Stormorken syndrome 2016-04-18 criteria provided, single submitter clinical testing

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