ClinVar Miner

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

dbSNP: rs1556346316
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727227 SCV000706763 pathogenic not provided 2017-03-09 criteria provided, single submitter clinical testing
Invitae RCV000591698 SCV000831565 pathogenic Lowe syndrome 2021-06-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in OCRL are known to be pathogenic (PMID: 21031565, 22381590). 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). This variant is not present in population databases (ExAC no frequency). 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.

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