ClinVar Miner

Submissions for variant NM_001382567.1(STIM1):c.910C>T (p.Arg304Trp)

dbSNP: rs483352867
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002228364 SCV000634525 pathogenic Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 2023-05-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 304 of the STIM1 protein (p.Arg304Trp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of autosomal dominant STIM1-related conditions (PMID: 24591628, 24619930, 25044882, 25577287, 26436962). In at least one individual the variant was observed to be de novo. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 132887). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on STIM1 protein function. Experimental studies have shown that this missense change affects STIM1 function (PMID: 24591628, 25044882).
Baylor Genetics RCV000850608 SCV000992841 pathogenic Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency 2017-12-31 criteria provided, single submitter clinical testing
GeneDx RCV004815190 SCV005439256 pathogenic not provided 2024-06-23 criteria provided, single submitter clinical testing Published functional studies demonstrate that this variant impairs the function of STIM1 (PMID: 24591628); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34440373, 32234795, 29483506, 30374325, 26436962, 30390422, 36749824, 4085141, 37903816, 31785581, 35724962, 25044882, 31216405, 33073872, 24591628, 30576443, 29146883, 28624464, 24619930, 25577287)
Department of Medical Genetics, Oslo University Hospital RCV000128580 SCV000118673 pathogenic Stormorken syndrome 2012-08-28 no assertion criteria provided research Missense mutation found to segregate with Stormorken syndrome (OMIM 185070) in four families
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV000128580 SCV000154183 not provided Stormorken syndrome no assertion provided not provided
OMIM RCV000128580 SCV000172228 pathogenic Stormorken syndrome 2014-10-01 no assertion criteria provided literature only

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