Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001022796 | SCV001184574 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-10-26 | criteria provided, single submitter | clinical testing | The p.A154V variant (also known as c.461C>T), located in coding exon 3 of the MSH2 gene, results from a C to T substitution at nucleotide position 461. The alanine at codon 154 is replaced by valine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. In addition, this alteration is predicted to be benign by MAPP-MMR in silico analyses (Chao EC et al. Hum. Mutat. 2008 Jun;29:852-60). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV001060535 | SCV001225229 | benign | Hereditary nonpolyposis colorectal neoplasms | 2022-09-27 | criteria provided, single submitter | clinical testing |