Submissions for variant NM_001447.3(FAT2):c.4523C>T (p.Thr1508Met)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002616627	SCV003508662	uncertain significance	not provided	2022-11-01	criteria provided, single submitter	clinical testing	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. 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 FAT2 protein function. This variant has not been reported in the literature in individuals affected with FAT2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 1508 of the FAT2 protein (p.Thr1508Met).
CeGaT Center for Human Genetics Tuebingen	RCV002616627	SCV004157469	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	FAT2: BP4