Submissions for variant NM_000170.3(GLDC):c.671G>A (p.Arg224His)

gnomAD frequency: 0.02214  dbSNP: rs28617412

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000383697	SCV000480523	likely benign	Glycine encephalopathy	2017-04-28	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Athena Diagnostics	RCV000518772	SCV000613532	benign	not specified	2017-06-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000383697	SCV000636417	benign	Glycine encephalopathy	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001706615	SCV001863177	benign	not provided	2018-07-26	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001706615	SCV005225352	likely benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000383697	SCV001458166	benign	Glycine encephalopathy	2020-09-16	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003922652	SCV004740658	benign	GLDC-related disorder	2019-02-28	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).