ClinVar Miner

Submissions for variant NM_001382567.1(STIM1):c.343A>T (p.Ile115Phe)

dbSNP: rs527236030
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000537798 SCV000634524 pathogenic Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 2020-04-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). This variant has been reported to be de novo in individuals affected with tubular aggregate myopathy and York platelet syndrome (YPS) and segregates in a family affected with YPS (PMID: 24570283, 25577287). ClinVar contains an entry for this variant (Variation ID: 143191). This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with phenylalanine at codon 115 of the STIM1 protein (p.Ile115Phe). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and phenylalanine.
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health RCV000132725 SCV000187654 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.
OMIM RCV000144069 SCV000189141 pathogenic Myopathy, tubular aggregate, 1 2015-03-01 no assertion criteria provided literature only
OMIM RCV000169763 SCV000221327 pathogenic Stormorken syndrome 2015-03-01 no assertion criteria provided literature only

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