Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002319209 | SCV001175318 | uncertain significance | Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis | 2019-10-30 | criteria provided, single submitter | clinical testing | The p.F714L variant (also known as c.2140T>C), located in coding exon 6 of the CASR gene, results from a T to C substitution at nucleotide position 2140. The phenylalanine at codon 714 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and leucine is the reference amino acid in other 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. |