Submissions for variant NM_004836.7(EIF2AK3):c.154G>A (p.Ala52Thr)

gnomAD frequency: 0.00370  dbSNP: rs201593811

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000173360	SCV000224462	benign	not specified	2017-04-12	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000379170	SCV000432454	likely benign	Wolcott-Rallison dysplasia	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Personalized Diabetes Medicine Program, University of Maryland School of Medicine	RCV000664082	SCV000787534	benign	Monogenic diabetes	2018-07-20	criteria provided, single submitter	research	ACMG criteria: BP4 (8 predictors + REVEL score 0.069; not using PP3 (2 predictors)),BS2 (5 homozygotes in gnomAD), BS1 (0.7% MAF in ENF, which is greater than 0.001 (estimated prevalence 1:1million)= benign
Invitae	RCV000894632	SCV001038628	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000173360	SCV002070966	benign	not specified	2021-04-08	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277335	SCV002566496	likely benign	Connective tissue disorder	2019-12-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000379170	SCV002802486	likely benign	Wolcott-Rallison dysplasia	2022-03-17	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000894632	SCV004033751	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	EIF2AK3: PP2, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000379170	SCV004564046	likely benign	Wolcott-Rallison dysplasia	2023-10-23	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003927584	SCV004740528	benign	EIF2AK3-related condition	2019-09-24	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000173360	SCV002036218	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000894632	SCV002037892	likely benign	not provided		no assertion criteria provided	clinical testing