ClinVar Miner

Submissions for variant NM_020800.3(IFT80):c.639+1del

dbSNP: rs2108362424
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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 RCV001389037 SCV001590242 pathogenic Jeune thoracic dystrophy 2023-07-22 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1075438). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with IFT80-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (Splice site) 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).

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