ClinVar Miner

Submissions for variant NM_001382567.1(STIM1):c.1206G>A (p.Leu402=)

gnomAD frequency: 0.00001  dbSNP: rs760051786
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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 RCV001218502 SCV001390385 uncertain significance Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 2023-10-13 criteria provided, single submitter clinical testing This sequence change affects codon 402 of the STIM1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the STIM1 protein. This variant is present in population databases (rs760051786, gnomAD 0.002%). 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: 947426). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus 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.

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