Submissions for variant NM_001113378.2(FANCI):c.712A>G (p.Ser238Gly)

gnomAD frequency: 0.00010  dbSNP: rs112932178

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001317746	SCV001508416	uncertain significance	Fanconi anemia	2022-10-13	criteria provided, single submitter	clinical testing	This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 238 of the FANCI protein (p.Ser238Gly). This variant is present in population databases (rs112932178, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with FANCI-related conditions. ClinVar contains an entry for this variant (Variation ID: 1018446). 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 FANCI 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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV002070146	SCV002011136	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002070146	SCV002497807	uncertain significance	not provided	2022-01-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001773635	SCV002813371	uncertain significance	Fanconi anemia complementation group I	2022-05-07	criteria provided, single submitter	clinical testing