ClinVar Miner

Submissions for variant NM_000276.4(OCRL):c.1440_1441CT[1] (p.Asp480_Ser481insTer) (rs1602791255)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000806128 SCV000946110 pathogenic Lowe syndrome 2018-09-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser481*) in the OCRL gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with suspected Lowe syndrome (PMID: 21031565). This variant is also known as c.1440_1441delCT in the literature. Loss-of-function variants in OCRL are known to be pathogenic (PMID: 21031565, 22381590). For these reasons, this variant has been classified as Pathogenic.

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