ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.919C>T (p.Arg307Ter)

dbSNP: rs1307461796
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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 RCV001951871 SCV002189163 pathogenic Saldino-Mainzer syndrome 2024-12-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg307*) 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 (no rsID available, gnomAD 0.0009%). 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: 1417771). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005016841 SCV005638741 likely pathogenic Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-06-18 criteria provided, single submitter clinical testing

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