ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2102G>A (p.Arg701His)

gnomAD frequency: 0.00001  dbSNP: rs1284532044
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000798609 SCV000938233 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2023-07-08 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. 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. ClinVar contains an entry for this variant (Variation ID: 644647). This variant has not been reported in the literature in individuals affected with CASR-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 701 of the CASR protein (p.Arg701His).
GeneDx RCV001766652 SCV002000267 uncertain significance not provided 2020-10-29 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002422725 SCV002724563 uncertain significance Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis 2022-05-12 criteria provided, single submitter clinical testing The p.R701H variant (also known as c.2102G>A), located in coding exon 6 of the CASR gene, results from a G to A substitution at nucleotide position 2102. The arginine at codon 701 is replaced by histidine, an amino acid with highly similar 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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