Submissions for variant NM_000481.4(AMT):c.354G>A (p.Leu118=)

gnomAD frequency: 0.00072  dbSNP: rs145194293

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000244017	SCV000304446	benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV001084069	SCV000759789	benign	Non-ketotic hyperglycinemia	2024-02-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000638295	SCV001153958	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	AMT: BP4, BP7
Illumina Laboratory Services, Illumina	RCV001084069	SCV001311642	uncertain significance	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Natera, Inc.	RCV001084069	SCV001460428	benign	Non-ketotic hyperglycinemia	2020-09-16	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000638295	SCV001928915	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000638295	SCV001970357	likely benign	not provided		no assertion criteria provided	clinical testing