ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.3939C>A (p.Cys1313Ter)

gnomAD frequency: 0.00006  dbSNP: rs1002670900
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578612 SCV000681094 pathogenic not provided 2025-01-13 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Identified in unrelated individuals with kidney disease and in the published literature (PMID: 39136524); This variant is associated with the following publications: (PMID: 39136524)
Blueprint Genetics RCV001075043 SCV001240654 likely pathogenic Retinal dystrophy 2018-05-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001230423 SCV001402901 pathogenic Saldino-Mainzer syndrome 2024-10-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys1313*) 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 0.002%). 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: 489108). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002506390 SCV002811535 likely pathogenic Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-06-17 criteria provided, single submitter clinical testing

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