ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2214_2217del (p.Asp738fs)

dbSNP: rs1415763185
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV001726721 SCV001961044 pathogenic Saldino-Mainzer syndrome 2021-06-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001726721 SCV002220540 pathogenic Saldino-Mainzer syndrome 2024-12-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp738Glufs*47) in the IFT140 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IFT140 are known to be pathogenic (PMID: 22503633, 23418020, 24009529, 26216056). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with IFT140-related conditions. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002496049 SCV002797407 pathogenic Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-05-03 criteria provided, single submitter clinical testing

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