ClinVar Miner

Submissions for variant NM_004928.3(CFAP410):c.285_301delinsACCCGTGCACGAACCCGT (p.Glu96fs)

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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 RCV002895502 SCV003248361 pathogenic not provided 2023-10-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu96Profs*42) in the CFAP410 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CFAP410 are known to be pathogenic (PMID: 23105016, 26167768). This variant is present in population databases (rs762116812, gnomAD 0.001%). This variant has not been reported in the literature in individuals affected with CFAP410-related conditions. For these reasons, this variant has been classified as Pathogenic.

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