ClinVar Miner

Submissions for variant NM_025103.4(IFT74):c.771_774del (p.Lys258fs)

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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 RCV003678411 SCV004423702 pathogenic not provided 2023-01-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys258Argfs*7) in the IFT74 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IFT74 are known to be pathogenic (PMID: 33531668). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with IFT74-related conditions. For these reasons, this variant has been classified as Pathogenic.

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