ClinVar Miner

Submissions for variant NM_000276.4(OCRL):c.1000C>T (p.Arg334Ter) (rs1556346316)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727227 SCV000706763 pathogenic not provided 2017-03-09 criteria provided, single submitter clinical testing
Invitae RCV000591698 SCV000831565 pathogenic Lowe syndrome 2018-06-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg334*) 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 to segregate with Lowe syndrome in a family (PMID: 10364518) and is present in individuals with Lowe syndrome (PMID: 25480730, 28973083). ClinVar contains an entry for this variant (Variation ID: 500705). 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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