Submissions for variant NM_000170.3(GLDC):c.1815C>T (p.Leu605=)

gnomAD frequency: 0.01328  dbSNP: rs74461075

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000384305	SCV000480506	benign	Glycine encephalopathy	2018-01-12	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000384305	SCV000636366	benign	Glycine encephalopathy	2025-02-04	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV001288617	SCV001475873	benign	not specified	2019-11-08	criteria provided, single submitter	clinical testing
GeneDx	RCV001723966	SCV001949623	benign	not provided	2020-09-09	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001723966	SCV005273709	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000384305	SCV001457126	benign	Glycine encephalopathy	2020-09-16	no assertion criteria provided	clinical testing