ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.409C>T (p.Arg137Ter)

gnomAD frequency: 0.00001  dbSNP: rs762817061
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075497 SCV001241121 likely pathogenic Retinal dystrophy 2018-11-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003645884 SCV004447917 pathogenic Saldino-Mainzer syndrome 2023-11-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg137*) 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 present in population databases (rs762817061, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with IFT140-related conditions (PMID: 36460718). ClinVar contains an entry for this variant (Variation ID: 867028). For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV003883548 SCV004701659 likely pathogenic not provided 2024-01-01 criteria provided, single submitter clinical testing IFT140: PVS1, PM2:Supporting
Fulgent Genetics, Fulgent Genetics RCV005021433 SCV005645306 likely pathogenic Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-04-03 criteria provided, single submitter clinical testing

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