Submissions for variant NM_002103.5(GYS1):c.1246A>G (p.Met416Val)

gnomAD frequency: 0.01369  dbSNP: rs5447

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000384563	SCV000414246	likely benign	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV000438153	SCV000519708	benign	not specified	2016-06-06	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.
Eurofins Ntd Llc (ga)	RCV000438153	SCV000856119	benign	not specified	2017-08-17	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000384563	SCV001727582	benign	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	2024-01-30	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004703798	SCV005209804	likely benign	not provided		criteria provided, single submitter	not provided