ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.991C>T (p.Arg331Trp)

dbSNP: rs2074632178
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001051110 SCV001215245 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2023-11-02 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 331 of the CASR protein (p.Arg331Trp). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CASR-related conditions. ClinVar contains an entry for this variant (Variation ID: 847542). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 RCV002379547 SCV002688808 uncertain significance Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis 2022-02-28 criteria provided, single submitter clinical testing The p.R331W variant (also known as c.991C>T), located in coding exon 3 of the CASR gene, results from a C to T substitution at nucleotide position 991. The arginine at codon 331 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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