ClinVar Miner

Submissions for variant NM_001382567.1(STIM1):c.1754A>G (p.Asn585Ser)

gnomAD frequency: 0.00001  dbSNP: rs748820994
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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 RCV001230596 SCV001403080 uncertain significance Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 2022-02-09 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 957596). This missense change has been observed in individual(s) with clinical features of tubular aggregate myopathy (Invitae). This variant is present in population databases (rs748820994, gnomAD 0.002%). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 554 of the STIM1 protein (p.Asn554Ser).
Mayo Clinic Laboratories, Mayo Clinic RCV004792830 SCV005412278 uncertain significance not provided 2024-01-22 criteria provided, single submitter clinical testing BP4, PM1_supporting, PM2_moderate

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