ClinVar Miner

Submissions for variant NM_001382567.1(STIM1):c.550C>T (p.Arg184Trp)

dbSNP: rs368391164
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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 RCV001225026 SCV001397261 uncertain significance Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 2022-02-04 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 952836). This variant has not been reported in the literature in individuals affected with STIM1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 184 of the STIM1 protein (p.Arg184Trp).
Ambry Genetics RCV004671275 SCV005165415 uncertain significance Inborn genetic diseases 2024-06-14 criteria provided, single submitter clinical testing The c.550C>T (p.R184W) alteration is located in exon 5 (coding exon 5) of the STIM1 gene. This alteration results from a C to T substitution at nucleotide position 550, causing the arginine (R) at amino acid position 184 to be replaced by a tryptophan (W). Based on data from gnomAD, the T allele has an overall frequency of <0.001% (1/251366) total alleles studied. The highest observed frequency was 0.003% (1/34590) of Latino alleles. This amino acid position is highly conserved in available vertebrate species. The in silico prediction for this alteration is inconclusive. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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