ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.1288G>T (p.Ala430Ser)

gnomAD frequency: 0.00001  dbSNP: rs201520875
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001245211 SCV001418483 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 430 of the CASR protein (p.Ala430Ser). 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: 969787). 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.
GeneDx RCV001751492 SCV001995767 uncertain significance not provided 2019-09-18 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002379939 SCV002690175 uncertain significance Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis 2021-10-11 criteria provided, single submitter clinical testing The p.A430S variant (also known as c.1288G>T), located in coding exon 3 of the CASR gene, results from a G to T substitution at nucleotide position 1288. The alanine at codon 430 is replaced by serine, an amino acid with 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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