ClinVar Miner

Submissions for variant NM_001382567.1(STIM1):c.1410C>G (p.His470Gln)

gnomAD frequency: 0.00004  dbSNP: rs748403696
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002273648 SCV002558533 uncertain significance not provided 2022-01-31 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV003774872 SCV004595854 uncertain significance Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 2024-01-28 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 470 of the STIM1 protein (p.His470Gln). This variant is present in population databases (rs748403696, gnomAD 0.01%). 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: 1699791). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt STIM1 protein function with a negative predictive value of 80%. 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.
Ambry Genetics RCV004681472 SCV005165418 uncertain significance Inborn genetic diseases 2024-03-25 criteria provided, single submitter clinical testing The c.1410C>G (p.H470Q) alteration is located in exon 10 (coding exon 10) of the STIM1 gene. This alteration results from a C to G substitution at nucleotide position 1410, causing the histidine (H) at amino acid position 470 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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