Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001031882 | SCV001195189 | pathogenic | PTEN hamartoma tumor syndrome | 2021-08-12 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 8 of the PTEN gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individual(s) with Cowden or Cowden-like syndrome (PMID: 25669429). This variant disrupts a region of the PTEN protein in which other variant(s) (p.Glu390*) have been determined to be pathogenic (PMID: 10468583, 10866658, 11035045, 12297295, 24905788, 25336918, 25448482; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |