Submissions for variant NM_000481.4(AMT):c.954G>A (p.Arg318=)

gnomAD frequency: 0.28593  dbSNP: rs11715915

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000249180	SCV000304447	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000375334	SCV000445372	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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000375334	SCV000743156	benign	Glycine encephalopathy	2016-11-14	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000249180	SCV001426882	benign	not specified	2020-07-26	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000375334	SCV001722615	benign	Glycine encephalopathy	2025-02-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000375334	SCV001762852	benign	Glycine encephalopathy	2021-07-10	criteria provided, single submitter	clinical testing
GeneDx	RCV001668432	SCV001886107	benign	not provided	2019-07-22	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28502726, 12948742, 22171071)
Breakthrough Genomics, Breakthrough Genomics	RCV001668432	SCV005300687	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000375334	SCV000734284	benign	Glycine encephalopathy		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000375334	SCV002081701	benign	Glycine encephalopathy	2019-11-20	no assertion criteria provided	clinical testing