ClinVar Miner

Submissions for variant NM_002547.3(OPHN1):c.1489C>T (p.Arg497Ter)

dbSNP: rs1569215382
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760476 SCV000890365 pathogenic not provided 2018-07-16 criteria provided, single submitter clinical testing The R497X variant in the OPHN1 gene has been reported previously in multiple individuals with OPHN1-related disorders (Grozeva et al., 2015; Tzschach et al., 2015). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R497X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R497X as a pathogenic variant.
Baylor Genetics RCV003147543 SCV003835868 pathogenic X-linked intellectual disability-cerebellar hypoplasia syndrome 2022-12-15 criteria provided, single submitter clinical testing

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