ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.6143del (p.Ile2048fs)

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
Labcorp Genetics (formerly Invitae), Labcorp RCV002633963 SCV003520085 uncertain significance Fanconi anemia 2022-04-12 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the FANCM gene (p.Ile2048Asnfs*17). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1 amino acid(s) of the FANCM protein and extend the protein by 15 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV004765692 SCV005380060 uncertain significance not provided 2023-12-19 criteria provided, single submitter clinical testing Frameshift variant predicted to result in abnormal protein length as the last 1 amino acid are replaced with 16 different amino acids; Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD)

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.