Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000570562 | SCV000663519 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-04-16 | criteria provided, single submitter | clinical testing | The p.E677A variant (also known as c.2030A>C), located in coding exon 12 of the PMS2 gene, results from an A to C substitution at nucleotide position 2030. The glutamic acid at codon 677 is replaced by alanine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Sema4, |
RCV000570562 | SCV002530251 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-12-28 | criteria provided, single submitter | curation |