Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV003482264 | SCV000612671 | uncertain significance | not provided | 2022-09-27 | criteria provided, single submitter | clinical testing | Available data are insufficient to determine the clinical significance of the variant at this time. This variant has not been reported in large, multi-ethnic general populations. (http://gnomad.broadinstitute.org) Computational tools predict that this variant is damaging. |
Ambry Genetics | RCV002341206 | SCV002635849 | uncertain significance | Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis | 2022-06-20 | criteria provided, single submitter | clinical testing | The p.L157P variant (also known as c.470T>C), located in coding exon 2 of the CASR gene, results from a T to C substitution at nucleotide position 470. The leucine at codon 157 is replaced by proline, an amino acid with similar properties. This amino acid position is conserved. 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. |