Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000711042 | SCV000841362 | uncertain significance | not provided | 2018-02-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002319098 | SCV001184334 | uncertain significance | Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis | 2018-12-30 | criteria provided, single submitter | clinical testing | The p.S150F variant (also known as c.449C>T), located in coding exon 2 of the CASR gene, results from a C to T substitution at nucleotide position 449. The serine at codon 150 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. 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. |
Invitae | RCV003768099 | SCV004592714 | uncertain significance | Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 | 2023-04-06 | criteria provided, single submitter | clinical testing | 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: 585624). This variant has not been reported in the literature in individuals affected with CASR-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 150 of the CASR protein (p.Ser150Phe). 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. |