Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001418398 | SCV001620624 | likely benign | not provided | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002456676 | SCV002614670 | uncertain significance | Nephrolithiasis/nephrocalcinosis | 2022-09-26 | criteria provided, single submitter | clinical testing | The p.A115T variant (also known as c.343G>A), located in coding exon 4 of the GRHPR gene, results from a G to A substitution at nucleotide position 343. The alanine at codon 115 is replaced by threonine, an amino acid with 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. |