Submissions for variant NM_002103.5(GYS1):c.207G>A (p.Thr69=)

gnomAD frequency: 0.00019  dbSNP: rs540438011

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000604691	SCV000725518	likely benign	not specified	2017-12-22	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000880901	SCV001024029	benign	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	2023-11-15	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000880901	SCV003800106	likely benign	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	2022-04-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003953063	SCV004767631	likely benign	GYS1-related disorder	2021-02-01	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).