Submissions for variant NM_000127.3(EXT1):c.850T>C (p.Tyr284His)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV002596210	SCV003503598	uncertain significance	Multiple congenital exostosis	2021-12-22	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 EXT1 protein function. This variant has not been reported in the literature in individuals affected with EXT1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 284 of the EXT1 protein (p.Tyr284His).
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University	RCV003154274	SCV003843496	benign	Ovarian cancer	2022-01-01	criteria provided, single submitter	clinical testing