ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.347_348del (p.Phe116fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002881756 SCV003239824 pathogenic Cranioectodermal dysplasia 1 2023-08-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe167Trpfs*6) in the IFT122 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IFT122 are known to be pathogenic (PMID: 20493458, 23826986, 26792575). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with IFT122-related conditions. ClinVar contains an entry for this variant (Variation ID: 2033213). For these reasons, this variant has been classified as Pathogenic.

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