ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.620del (p.Leu207fs)

dbSNP: rs753727461
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001212916 SCV001384526 pathogenic Fanconi anemia 2023-09-23 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: 929685). This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 17924555). This variant is present in population databases (rs753727461, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Leu207Profs*2) in the FANCG gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCG are known to be pathogenic (PMID: 12552564).
Fulgent Genetics, Fulgent Genetics RCV001194949 SCV002813937 pathogenic Fanconi anemia complementation group G 2022-03-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003883573 SCV004698547 pathogenic not provided 2024-01-01 criteria provided, single submitter clinical testing FANCG: PVS1, PM2, PM3
Leiden Open Variation Database RCV001194949 SCV001364817 pathogenic Fanconi anemia complementation group G 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.
Natera, Inc. RCV001194949 SCV002077468 pathogenic Fanconi anemia complementation group G 2021-06-11 no assertion criteria provided clinical testing

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.