ClinVar Miner

Submissions for variant NM_001382567.1(STIM1):c.340C>T (p.Leu114Phe)

gnomAD frequency: 0.00001  dbSNP: rs201767533
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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 RCV002231720 SCV000634550 uncertain significance Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 2021-07-16 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with STIM1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with phenylalanine at codon 114 of the STIM1 protein (p.Leu114Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine.
Fulgent Genetics, Fulgent Genetics RCV002483395 SCV002789882 uncertain significance Myopathy, tubular aggregate, 1; Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency 2022-05-11 criteria provided, single submitter clinical testing

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