Submissions for variant NM_004629.2(FANCG):c.55A>G (p.Lys19Glu)

gnomAD frequency: 0.00005  dbSNP: rs186641344

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000817154	SCV000957700	uncertain significance	Fanconi anemia	2022-10-04	criteria provided, single submitter	clinical testing	This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 19 of the FANCG protein (p.Lys19Glu). This variant is present in population databases (rs186641344, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with FANCG-related conditions. ClinVar contains an entry for this variant (Variation ID: 660038). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FANCG protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genetic Services Laboratory, University of Chicago	RCV001816900	SCV002068493	uncertain significance	not specified	2018-03-21	criteria provided, single submitter	clinical testing
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University	RCV003153858	SCV003843716	benign	Ovarian cancer	2022-01-01	criteria provided, single submitter	clinical testing