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

dbSNP: rs1829130135

Total submissions: 3

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.