ClinVar Miner

Submissions for variant NM_001382567.1(STIM1):c.1937G>A (p.Arg646His)

gnomAD frequency: 0.00006  dbSNP: rs145197758
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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 RCV000548778 SCV000634545 uncertain significance Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 2024-12-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 615 of the STIM1 protein (p.Arg615His). This variant is present in population databases (rs145197758, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with STIM1-related conditions. ClinVar contains an entry for this variant (Variation ID: 461727). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Probably Damaging". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV003387876 SCV004099476 uncertain significance Stormorken syndrome 2023-10-30 no assertion criteria provided clinical testing

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