ClinVar Miner

Submissions for variant NM_001382567.1(STIM1):c.1394G>A (p.Arg465His)

gnomAD frequency: 0.00005  dbSNP: rs375914426
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001315631 SCV001506214 uncertain significance Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 2023-12-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 465 of the STIM1 protein (p.Arg465His). This variant is present in population databases (rs375914426, gnomAD 0.02%). 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: 1016603). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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 RCV002543674 SCV003731110 uncertain significance Inborn genetic diseases 2022-12-01 criteria provided, single submitter clinical testing The c.1394G>A (p.R465H) alteration is located in exon 10 (coding exon 10) of the STIM1 gene. This alteration results from a G to A substitution at nucleotide position 1394, causing the arginine (R) at amino acid position 465 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003490183 SCV004237902 uncertain significance not provided 2023-05-08 criteria provided, single submitter clinical testing

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