ClinVar Miner

Submissions for variant NM_014053.4(FLVCR1):c.742G>T (p.Gly248Ter)

gnomAD frequency: 0.00002  dbSNP: rs746482522
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.