ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.1529A>G (p.Tyr510Cys)

gnomAD frequency: 0.00004  dbSNP: rs372504955
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001207216 SCV001378560 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2023-06-20 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 510 of the CASR protein (p.Tyr510Cys). This variant is present in population databases (rs372504955, gnomAD 0.02%). 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: 938067). 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.
Ambry Genetics RCV002402602 SCV002706626 uncertain significance Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis 2021-09-24 criteria provided, single submitter clinical testing The p.Y510C variant (also known as c.1529A>G), located in coding exon 4 of the CASR gene, results from an A to G substitution at nucleotide position 1529. The tyrosine at codon 510 is replaced by cysteine, an amino acid with highly dissimilar 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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