ClinVar Miner

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

dbSNP: rs1602819835
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000794610 SCV000934029 pathogenic Lowe syndrome 2023-09-20 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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 premature translational stop signal has been observed in individual(s) with clinical features of Lowe syndrome (PMID: 21031565, 25480730). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 641377).
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000851318 SCV000993613 pathogenic Dent disease type 2 2019-03-29 criteria provided, single submitter research
3billion, Medical Genetics 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.
GeneDx RCV004702424 SCV005201706 pathogenic not provided 2024-01-22 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 31328266, 31376231, 31674016, 25480730, 21031565, 35919034)

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