ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.4275del (p.Asp1427fs) (rs1598048941)

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
Invitae RCV000795080 SCV000934521 likely pathogenic Fanconi anemia 2018-12-31 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the FANCA gene (p.Asp1427Thrfs*6). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 29 amino acids of the FANCA protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with FANCA-related conditions (PMID: 11091222). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant disrupts the C-terminus of the FANCA protein. Other variant(s) that disrupt this region (p.Pro1430Argfs*17) have been observed in individuals with FANCA-related conditions (PMID: 29098742). This suggests that this may be a clinically significant region of the protein. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Leiden Open Variation Database RCV001256529 SCV001426004 pathogenic Fanconi anemia, complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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.