ClinVar Miner

Submissions for variant NM_020800.3(IFT80):c.1961dup (p.Asn654fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002615960 SCV003505909 pathogenic Jeune thoracic dystrophy 2022-09-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with IFT80-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Asn654Lysfs*5) 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).
Fulgent Genetics, Fulgent Genetics RCV005034764 SCV005660357 likely pathogenic Asphyxiating thoracic dystrophy 2 2024-06-14 criteria provided, single submitter clinical testing

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