ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.614G>A (p.Arg205His)

gnomAD frequency: 0.00001  dbSNP: rs763162046
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000820179 SCV000960879 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2023-12-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 205 of the CASR protein (p.Arg205His). This variant is present in population databases (rs763162046, gnomAD 0.007%). 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: 662519). 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 RCV002352451 SCV002660289 uncertain significance Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis 2021-09-01 criteria provided, single submitter clinical testing The p.R205H variant (also known as c.614G>A), located in coding exon 3 of the CASR gene, results from a G to A substitution at nucleotide position 614. The arginine at codon 205 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 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 RCV002487830 SCV002778742 uncertain significance Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Epilepsy, idiopathic generalized, susceptibility to, 8; Autosomal dominant hypocalcemia 1 2021-10-15 criteria provided, single submitter clinical testing

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