Submissions for variant NM_004629.2(FANCG):c.769C>G (p.Arg257Gly)

dbSNP: rs759314410

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001046724	SCV001210638	uncertain significance	Fanconi anemia	2021-08-13	criteria provided, single submitter	clinical testing	This sequence change replaces arginine with glycine at codon 257 of the FANCG protein (p.Arg257Gly). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with FANCG-related conditions (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV001283830	SCV004806135	likely pathogenic	Fanconi anemia complementation group G	2024-03-25	criteria provided, single submitter	clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	RCV001283830	SCV001469250	uncertain significance	Fanconi anemia complementation group G	2021-09-06	no assertion criteria provided	clinical testing