Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001219134 | SCV001391055 | pathogenic | PTEN hamartoma tumor syndrome | 2019-04-29 | criteria provided, single submitter | clinical testing | This variant is a deletion of the genomic region encompassing part of exon 8 (c.802-132_934del) of the PTEN gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has been observed in an individual with clinical features of PTEN hamartoma tumor syndrome (Invitae). This variant disrupts the p.Thr277 amino acid residue in PTEN. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 20712882, 23335809, 29706350). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Loss-of-function variants in PTEN are known to be pathogenic (PMID: 9467011, 21194675). For these reasons, this variant has been classified as Pathogenic. |