Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000591668 | SCV000709518 | uncertain significance | not provided | 2017-06-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000639456 | SCV000761031 | uncertain significance | Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 | 2023-04-20 | 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. ClinVar contains an entry for this variant (Variation ID: 502680). This missense change has been observed in individual(s) with autosomal dominant hypocalcemia (ADH) and/or familial hypocalciuric hypercalcemia (FHH) (PMID: 22192860, 34160437). This variant is present in population databases (rs775751453, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 205 of the CASR protein (p.Arg205Cys). |
Ambry Genetics | RCV002358665 | SCV002661336 | uncertain significance | Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis | 2020-03-28 | criteria provided, single submitter | clinical testing | The p.R205C variant (also known as c.613C>T), located in coding exon 3 of the CASR gene, results from a C to T substitution at nucleotide position 613. The arginine at codon 205 is replaced by cysteine, an amino acid with highly dissimilar properties. This variant was identified in an individual with familial hypocalciuric hypercalcemia (Nissen PH et al. Clin. Chim. Acta, 2012 Mar;413:605-11). 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. |