ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.3109C>T (p.Gln1037Ter)

dbSNP: rs774547622
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001795667 SCV002240287 pathogenic Saldino-Mainzer syndrome 2023-10-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1037*) 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. ClinVar contains an entry for this variant (Variation ID: 1328235). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, Cologne University RCV001795667 SCV002034870 likely pathogenic Saldino-Mainzer syndrome no assertion criteria provided clinical testing compound heterozygous with c.454C>T (p.L152F)

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