ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.3426_3430del (p.Ser1143fs)

dbSNP: rs1299632365
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001783467 SCV002023129 pathogenic Cranioectodermal dysplasia 1 2020-03-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001783467 SCV003255668 pathogenic Cranioectodermal dysplasia 1 2024-11-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser1194Argfs*3) 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 present in population databases (no rsID available, gnomAD 0.003%). 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: 1323103). For these reasons, this variant has been classified as Pathogenic.

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