Submissions for variant NM_004629.2(FANCG):c.1702A>G (p.Thr568Ala)

gnomAD frequency: 0.00002  dbSNP: rs750212705

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001242335	SCV001415416	uncertain significance	Fanconi anemia	2022-10-18	criteria provided, single submitter	clinical testing	This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 568 of the FANCG protein (p.Thr568Ala). This variant is present in population databases (rs750212705, gnomAD 0.08%). 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: 967427). 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.
Fulgent Genetics, Fulgent Genetics	RCV001835125	SCV002780925	uncertain significance	Fanconi anemia complementation group G	2022-05-18	criteria provided, single submitter	clinical testing
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University	RCV003153956	SCV003843266	benign	Ovarian cancer	2022-01-01	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001835125	SCV002085269	uncertain significance	Fanconi anemia complementation group G	2020-04-15	no assertion criteria provided	clinical testing