Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001949753 | SCV002201934 | uncertain significance | Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates | 2023-08-31 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs201500852, gnomAD 0.004%). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 21 of the STIM1 protein (p.Gln21Arg). 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: 1426521). 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. 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 | RCV004671537 | SCV005165420 | uncertain significance | Inborn genetic diseases | 2024-04-15 | criteria provided, single submitter | clinical testing | The c.62A>G (p.Q21R) alteration is located in exon 1 (coding exon 1) of the STIM1 gene. This alteration results from a A to G substitution at nucleotide position 62, causing the glutamine (Q) at amino acid position 21 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |