ClinVar Miner

Submissions for variant NM_000276.4(OCRL):c.1753_1755del (p.Glu585del)

dbSNP: rs1936362098
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Total submissions: 1
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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.

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