ClinVar Miner

Submissions for variant NM_001382567.1(STIM1):c.1703CTC[1] (p.Pro569del)

dbSNP: rs754674804
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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 RCV001307753 SCV001497178 uncertain significance Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 2022-07-26 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. This variant, c.1613_1615del, results in the deletion of 1 amino acid(s) of the STIM1 protein (p.Pro538del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs754674804, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with STIM1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown.

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