Submissions for variant NM_000158.4(GBE1):c.232G>A (p.Val78Ile)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003056548	SCV003448332	uncertain significance	Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic	2022-11-01	criteria provided, single submitter	clinical testing	This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 78 of the GBE1 protein (p.Val78Ile). This variant is present in population databases (rs760216641, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with GBE1-related conditions. 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 GBE1 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.
Baylor Genetics	RCV003147816	SCV003836164	uncertain significance	Glycogen storage disease, type IV	2022-01-27	criteria provided, single submitter	clinical testing