ClinVar Miner

Submissions for variant NM_001382567.1(STIM1):c.326A>G (p.His109Arg)

dbSNP: rs397514677
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000814240 SCV000954642 pathogenic Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 2024-03-30 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 109 of the STIM1 protein (p.His109Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with tubular aggregate myopathy (TAM) (PMID: 23332920, 24570283). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 41483). 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: 23332920). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001781342 SCV002021972 pathogenic not provided 2021-03-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001781342 SCV004811859 pathogenic not provided 2024-03-01 criteria provided, single submitter clinical testing STIM1: PM2, PM5, PM6, PS4:Moderate, PP4, PS3:Supporting
OMIM RCV000034367 SCV000058351 pathogenic Myopathy, tubular aggregate, 1 2014-05-01 no assertion criteria provided literature only
Genomics England Pilot Project, Genomics England RCV000034367 SCV001760267 likely pathogenic Myopathy, tubular aggregate, 1 no assertion criteria provided clinical testing

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