ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.3939C>A (p.Cys1313Ter) (rs1002670900)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578612 SCV000681094 pathogenic not provided 2017-11-10 criteria provided, single submitter clinical testing The C1313X variant in the IFT140 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although not present in the homozygous state, the C1313X variant is observed in 3/124152 alleles from individuals of non-Finnish European background in large population cohorts (Lek et al., 2016). We interpret C1313X as a pathogenic variant.
Blueprint Genetics RCV001075043 SCV001240654 likely pathogenic Retinal dystrophy 2018-05-07 criteria provided, single submitter clinical testing
Invitae RCV001230423 SCV001402901 pathogenic Saldino-Mainzer syndrome 2020-02-24 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. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with IFT140-related conditions. ClinVar contains an entry for this variant (Variation ID: 489108). Loss-of-function variants in IFT140 are known to be pathogenic (PMID: 22503633, 23418020, 24009529, 26216056). For these reasons, this variant has been classified as Pathogenic.

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