Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000760774 | SCV000890669 | likely pathogenic | not provided | 2018-10-04 | criteria provided, single submitter | clinical testing | The G248X variant in the FLVCR1 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. The G248X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret G248X as a likely pathogenic variant. |
Invitae | RCV000760774 | SCV002133342 | pathogenic | not provided | 2021-10-14 | 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: 620400). This variant has not been reported in the literature in individuals affected with FLVCR1-related conditions. This variant is present in population databases (rs746482522, ExAC 0.001%). This sequence change creates a premature translational stop signal (p.Gly248*) in the FLVCR1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FLVCR1 are known to be pathogenic (PMID: 23591405, 27923065). |