ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.2017C>T (p.Arg673Ter)

gnomAD frequency: 0.00001  dbSNP: rs1185183557
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760919 SCV000890815 likely pathogenic not provided 2019-01-23 criteria provided, single submitter clinical testing The R724X variant in the IFT122 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R724X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret R724X as a likely pathogenic variant.
Fulgent Genetics, Fulgent Genetics RCV002500985 SCV002809865 likely pathogenic Cranioectodermal dysplasia 1 2021-11-06 criteria provided, single submitter clinical testing

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