ClinVar Miner

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

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 RCV001038216 SCV001201678 uncertain significance Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 2023-11-25 criteria provided, single submitter clinical testing 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. This variant is present in population databases (rs201348785, gnomAD 0.004%). 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: 836980). 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 create or strengthen a splice site. 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.
GeneDx RCV004800665 SCV005421844 uncertain significance not provided 2024-06-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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