Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001049745 | SCV001213813 | pathogenic | Lowe syndrome | 2019-08-08 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has been reported to affect OCRL protein function (PMID: 21233288, 21666675, 17765681). This variant has been observed in a family affected with Lowe syndrome (PMID: 10923037). This variant is also known as 929 del GAG (delE568) in the literature. This variant is not present in population databases (ExAC no frequency). This variant, c.1753_1755del, results in the deletion of 1 amino acid of the OCRL protein (p.Glu585del) but otherwise preserves the integrity of the reading frame. |