ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.992G>A (p.Arg331Gln)

dbSNP: rs747090029
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002231747 SCV000638090 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2023-11-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 331 of the CASR protein (p.Arg331Gln). 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 variant has not been reported in the literature in individuals affected with CASR-related conditions. ClinVar contains an entry for this variant (Variation ID: 463963). 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.
Eurofins Ntd Llc (ga) RCV000733127 SCV000861149 uncertain significance not provided 2018-05-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002384120 SCV002688824 uncertain significance Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis 2021-07-08 criteria provided, single submitter clinical testing The p.R331Q variant (also known as c.992G>A), located in coding exon 3 of the CASR gene, results from a G to A substitution at nucleotide position 992. The arginine at codon 331 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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