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 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 2023-07-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 489108). This variant has not been reported in the literature in individuals affected with IFT140-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). 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).
Fulgent Genetics, Fulgent Genetics RCV002506390 SCV002811535 likely pathogenic Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2021-09-20 criteria provided, single submitter clinical testing

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