ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.1149G>C (p.Arg383Ser)

gnomAD frequency: 0.00001  dbSNP: rs148573275
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000686023 SCV000813526 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2023-10-14 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 383 of the CASR protein (p.Arg383Ser). This variant is present in population databases (rs148573275, gnomAD 0.003%). 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: 566258). 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 tolerated. 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.
Ambry Genetics RCV002331327 SCV001178562 uncertain significance Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis 2022-05-17 criteria provided, single submitter clinical testing The p.R383S variant (also known as c.1149G>C), located in coding exon 3 of the CASR gene, results from a G to C substitution at nucleotide position 1149. The arginine at codon 383 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002485595 SCV002783340 uncertain significance Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Epilepsy, idiopathic generalized, susceptibility to, 8; Autosomal dominant hypocalcemia 1 2022-02-10 criteria provided, single submitter clinical testing

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