Submissions for variant NM_000481.4(AMT):c.898A>G (p.Met300Val)

gnomAD frequency: 0.00397  dbSNP: rs144971200

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224316	SCV000281318	likely benign	not provided	2015-10-28	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Illumina Laboratory Services, Illumina	RCV000263419	SCV000445373	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	RCV000263419	SCV000636430	benign	Glycine encephalopathy	2025-01-25	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000224316	SCV001143009	benign	not provided	2019-06-12	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000224316	SCV005261403	likely benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000263419	SCV001460882	benign	Glycine encephalopathy	2019-11-11	no assertion criteria provided	clinical testing