Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000708842 | SCV000837851 | uncertain significance | Lynch syndrome | 2018-07-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002424730 | SCV002731007 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-02-14 | criteria provided, single submitter | clinical testing | The p.D748V variant (also known as c.2243A>T), located in coding exon 14 of the MSH2 gene, results from an A to T substitution at nucleotide position 2243. The aspartic acid at codon 748 is replaced by valine, an amino acid with highly 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. |