Submissions for variant NM_001447.3(FAT2):c.8000G>C (p.Gly2667Ala)

gnomAD frequency: 0.00006  dbSNP: rs199617774

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003106399	SCV003781763	uncertain significance	not provided	2023-07-10	criteria provided, single submitter	clinical testing	This variant has not been reported in the literature in individuals affected with FAT2-related conditions. This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 2667 of the FAT2 protein (p.Gly2667Ala). This variant is present in population databases (rs199617774, gnomAD 0.01%). ClinVar contains an entry for this variant (Variation ID: 2414066). 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 expected to disrupt FAT2 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.
CeGaT Center for Human Genetics Tuebingen	RCV003106399	SCV003917003	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	FAT2: BP4