Submissions for variant NM_000170.3(GLDC):c.2683A>G (p.Met895Val)

gnomAD frequency: 0.00200  dbSNP: rs141152043

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000277386	SCV000480495	likely benign	Non-ketotic hyperglycinemia	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000277386	SCV000636394	likely benign	Non-ketotic hyperglycinemia	2024-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001200494	SCV001371469	uncertain significance	not provided	2020-04-01	criteria provided, single submitter	clinical testing
Elsea Laboratory, Baylor College of Medicine	RCV000277386	SCV001424246	uncertain significance	Non-ketotic hyperglycinemia	2020-04-01	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV001200494	SCV001475875	uncertain significance	not provided	2020-02-25	criteria provided, single submitter	clinical testing
GeneDx	RCV001200494	SCV001802108	likely benign	not provided	2021-01-26	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000277386	SCV001458634	benign	Non-ketotic hyperglycinemia	2019-11-11	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003897818	SCV004721452	likely benign	GLDC-related disorder	2022-04-11	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).