ClinVar Miner

Submissions for variant NM_020800.3(IFT80):c.2124C>G (p.Tyr708Ter)

dbSNP: rs1281270349
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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 RCV002638590 SCV003521324 pathogenic Jeune thoracic dystrophy 2024-07-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr708*) in the IFT80 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IFT80 are known to be pathogenic (PMID: 21227999, 23339108, 29068549). 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 IFT80-related conditions. ClinVar contains an entry for this variant (Variation ID: 2201153). For these reasons, this variant has been classified as Pathogenic.

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