ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.212T>C (p.Leu71Pro)

dbSNP: rs1829130135
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002271629 SCV002556160 pathogenic Fanconi anemia 2022-06-02 criteria provided, single submitter clinical testing Variant summary: FANCG c.212T>C (p.Leu71Pro) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251466 control chromosomes (gnomAD). c.212T>C has been reported in the literature in multiple homozygous individuals affected with Fanconi Anemia (Demuth_2000, Steinberg-Shemer_2020). These data indicate that the variant is very likely to be associated with disease. Experimental evidence demonstrated the variant has no complementing activity in FANCG cells, and abolishes the normal interaction of FANCG with both XRCC3 and FANCD1/BRCA2 (Hinz_2006, Hussain_2006). No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.
Baylor Genetics RCV001194940 SCV004199180 likely pathogenic Fanconi anemia complementation group G 2022-03-02 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001194940 SCV001364806 pathogenic Fanconi anemia complementation group G 2011-02-07 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.