ClinVar Miner

Submissions for variant NM_001382567.1(STIM1):c.1334C>T (p.Pro445Leu)

dbSNP: rs925534511
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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 RCV002231719 SCV000634533 uncertain significance Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 2017-04-11 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a STIM1-related disease. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. 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: "Possibly Damaging"; Align-GVGD: "Class C15"). This sequence change replaces proline with leucine at codon 445 of the STIM1 protein (p.Pro445Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine.

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