ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.4177G>A (p.Val1393Met)

gnomAD frequency: 0.00009  dbSNP: rs199652831
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001292617 SCV001481205 uncertain significance Fanconi anemia complementation group A 2020-09-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001859237 SCV002139809 benign Fanconi anemia 2024-01-24 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001859237 SCV002535041 uncertain significance Fanconi anemia 2021-08-10 criteria provided, single submitter curation
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV001292617 SCV005402122 uncertain significance Fanconi anemia complementation group A 2024-04-11 criteria provided, single submitter clinical testing The FANCA c.4177G>A (p.Val1393Met) missense change has a maximum subpopulation frequency of 0.03% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL is inconclusive about a pathogenic or benign effect of this variant on protein function, and functional studies have not been performed. This variant has not been reported in individuals with Fanconi anemia. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.

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.