ClinVar Miner

Submissions for variant NM_001382567.1(STIM1):c.792-3C>G

dbSNP: rs201348785
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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 RCV001341377 SCV001535248 uncertain significance Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 2022-12-06 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1038109). 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 0.003%). This sequence change falls in intron 6 of the STIM1 gene. It does not directly change the encoded amino acid sequence of the STIM1 protein. It affects a nucleotide within the consensus splice site.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003992502 SCV004809550 uncertain significance Combined immunodeficiency due to STIM1 deficiency 2024-04-04 criteria provided, single submitter clinical testing

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