ClinVar Miner

Submissions for variant NM_001102564.3(IFT43):c.136_137del (p.Leu46fs)

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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 RCV003048650 SCV003352728 pathogenic not provided 2022-05-08 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 IFT43-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu46Aspfs*8) in the IFT43 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IFT43 are known to be pathogenic (PMID: 21378380, 28400947).

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