ClinVar Miner

Submissions for variant NM_000276.4(OCRL):c.2464C>T (p.Arg822Ter)

dbSNP: rs1602819835
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000794610 SCV000934029 pathogenic Lowe syndrome 2023-09-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg822*) in the OCRL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in OCRL are known to be pathogenic (PMID: 19390221, 21031565, 22381590). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of Lowe syndrome (PMID: 21031565, 25480730). ClinVar contains an entry for this variant (Variation ID: 641377). For these reasons, this variant has been classified as Pathogenic.
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000851318 SCV000993613 pathogenic Dent disease type 2 2019-03-29 criteria provided, single submitter research
3billion RCV000794610 SCV003842102 pathogenic Lowe syndrome 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. This variant was predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported at least twice as pathogenic without evidence for the classification (ClinVar ID: VCV000641377 / PMID: 21031565). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.

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