ClinVar Miner

Submissions for variant NM_001382567.1(STIM1):c.239A>C (p.Asn80Thr)

dbSNP: rs748277951
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001068304 SCV001233408 likely pathogenic Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 2019-01-03 criteria provided, single submitter clinical testing This variant has been reported to affect STIM1 protein function (PMID: 25326555). This sequence change replaces asparagine with threonine at codon 80 of the STIM1 protein (p.Asn80Thr). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with tubular aggregate myopathy (TAM) and was observed to be de novo in one individual (PMID: 25326555). ClinVar contains an entry for this variant (Variation ID: 189363). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000169764 SCV000221328 pathogenic Myopathy, tubular aggregate, 1 2014-12-01 no assertion criteria provided literature only

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