Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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, |
RCV002506390 | SCV002811535 | likely pathogenic | Saldino-Mainzer syndrome; Retinitis pigmentosa 80 | 2021-09-20 | criteria provided, single submitter | clinical testing |