ClinVar Miner

Submissions for variant NM_001382567.1(STIM1):c.498-4A>G

gnomAD frequency: 0.00001  dbSNP: rs977105613
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001238721 SCV001411549 uncertain significance Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 2023-05-21 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. ClinVar contains an entry for this variant (Variation ID: 964492). This variant has not been reported in the literature in individuals affected with STIM1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change falls in intron 4 of the STIM1 gene. It does not directly change the encoded amino acid sequence of the STIM1 protein.

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