ClinVar Miner

Submissions for variant NM_000276.4(OCRL):c.2428C>T (p.Arg810Ter)

dbSNP: rs1569463775
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729366 SCV000857021 pathogenic not provided 2017-09-28 criteria provided, single submitter clinical testing
Invitae RCV000768436 SCV001587965 pathogenic Lowe syndrome 2020-08-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg810*) 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 individual(s) with Lowe syndrome (PMID: 10923037). It is also known as R793X in the literature. ClinVar contains an entry for this variant (Variation ID: 594148). Loss-of-function variants in OCRL are known to be pathogenic (PMID: 21031565, 22381590). For these reasons, this variant has been classified as Pathogenic.
Biochemistry Laboratory of CDMU, Chengde Medical University RCV000768436 SCV000899195 pathogenic Lowe syndrome no assertion criteria provided case-control

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