Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001027205 | SCV001189723 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-04-01 | criteria provided, single submitter | clinical testing | The p.G271V variant (also known as c.812G>T), located in coding exon 8 of the PMS2 gene, results from a G to T substitution at nucleotide position 812. The glycine at codon 271 is replaced by valine, an amino acid with dissimilar properties. This alteration was detected in a homozygous state in two siblings with a clinical diagnosis of constitutional mismatch repair deficiency (Kruger S et al. Eur. J. Hum. Genet. 2008 Jan;16(1):62-72). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |