Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000472627 | SCV000564011 | pathogenic | Lynch syndrome | 2016-12-24 | criteria provided, single submitter | clinical testing | This sequence change is a gross deletion of the genomic region encompassing exon 10 of the PMS2 gene. This leads to the deletion of 52 amino acid residues in the PMS2 protein (p.Glu330_Glu381del), but is otherwise expected to preserve the integrity of the reading frame. Similar deletions of exon 10 have been reported in several patients with Lynch syndrome (PMID: 23837913, 22577899, 18602922). For these reasons, this deletion has been classified as Pathogenic. |