Submissions for variant NM_000170.3(GLDC):c.666T>C (p.Asp222=)

gnomAD frequency: 0.02547  dbSNP: rs12004164

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000289609	SCV000480524	benign	Glycine encephalopathy	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics	RCV000517568	SCV000613531	benign	not specified	2017-06-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000289609	SCV000636416	benign	Glycine encephalopathy	2025-02-04	criteria provided, single submitter	clinical testing
GeneDx	RCV001712169	SCV001944750	benign	not provided	2018-08-10	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001712169	SCV005273744	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000289609	SCV001458167	benign	Glycine encephalopathy	2020-09-16	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003922653	SCV004746520	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).