ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.865A>G (p.Thr289Ala)

dbSNP: rs1559959294
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694557 SCV000823008 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2023-09-10 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. This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 289 of the CASR protein (p.Thr289Ala). 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: 573012).
Ambry Genetics RCV002369876 SCV002684423 uncertain significance Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis 2021-08-13 criteria provided, single submitter clinical testing The p.T289A variant (also known as c.865A>G), located in coding exon 3 of the CASR gene, results from an A to G substitution at nucleotide position 865. The threonine at codon 289 is replaced by alanine, 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.
Fulgent Genetics, Fulgent Genetics RCV002485676 SCV002781256 uncertain significance Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Epilepsy, idiopathic generalized, susceptibility to, 8; Autosomal dominant hypocalcemia 1 2022-05-06 criteria provided, single submitter clinical testing

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