ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.2668C>T (p.Arg890Ter)

dbSNP: rs863225212
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program, University of Washington RCV000201562 SCV000256457 pathogenic Joubert syndrome 10 2015-02-23 criteria provided, single submitter research
GeneDx RCV000484195 SCV000566144 pathogenic not provided 2020-10-02 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 in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 26092869, 29089047)
Labcorp Genetics (formerly Invitae), Labcorp RCV001383220 SCV001582306 pathogenic Familial aplasia of the vermis; Orofaciodigital syndrome I 2024-03-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg890*) in the OFD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in OFD1 are known to be pathogenic (PMID: 16783569, 18546297, 27081566). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Joubert Syndrome (PMID: 26092869). ClinVar contains an entry for this variant (Variation ID: 217686). For these reasons, this variant has been classified as Pathogenic.
Dept Of Ophthalmology, Nagoya University RCV003888641 SCV004707060 pathogenic Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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