Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003160163 | SCV003859823 | uncertain significance | Inborn genetic diseases | 2023-01-12 | criteria provided, single submitter | clinical testing | The p.N867S variant (also known as c.2600A>G), located in coding exon 23 of the PRKDC gene, results from an A to G substitution at nucleotide position 2600. The asparagine at codon 867 is replaced by serine, an amino acid with highly 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. |
Department of Pediatrics, |
RCV001252836 | SCV001163979 | uncertain significance | Microcephaly | no assertion criteria provided | research |