Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003172138 | SCV003858909 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-01-26 | criteria provided, single submitter | clinical testing | The p.A395T variant (also known as c.1183G>A), located in coding exon 12 of the MLH1 gene, results from a G to A substitution at nucleotide position 1183. The alanine at codon 395 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. |
All of Us Research Program, |
RCV004009643 | SCV004834473 | uncertain significance | Lynch syndrome | 2024-01-11 | criteria provided, single submitter | clinical testing |