Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001015471 | SCV001176307 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-08-22 | criteria provided, single submitter | clinical testing | The p.A808T variant (also known as c.2422G>A), located in coding exon 14 of the PMS2 gene, results from a G to A substitution at nucleotide position 2422. The alanine at codon 808 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. 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. |
| Fulgent Genetics, |
RCV002505544 | SCV002815121 | uncertain significance | Lynch syndrome 4; Mismatch repair cancer syndrome 4 | 2022-05-31 | criteria provided, single submitter | clinical testing | |
| Color Diagnostics, |
RCV001015471 | SCV004358988 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-08-23 | criteria provided, single submitter | clinical testing | This missense variant replaces alanine with threonine at codon 808 of the PMS2 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 3/217656 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |