Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002373074 | SCV002686686 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-09-09 | criteria provided, single submitter | clinical testing | The p.A31D variant (also known as c.92C>A), located in coding exon 1 of the MLH1 gene, results from a C to A substitution at nucleotide position 92. The alanine at codon 31 is replaced by aspartic acid, an amino acid with dissimilar 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. |
Genetics and Personalized Medicine Clinic, |
RCV002280603 | SCV002568454 | likely pathogenic | Lynch syndrome 1 | no assertion criteria provided | clinical testing |