Submissions for variant NM_033087.4(ALG2):c.475A>G (p.Ile159Val)

gnomAD frequency: 0.00055  dbSNP: rs146770430

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001572637	SCV000533216	likely benign	not provided	2018-05-02	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000766035	SCV000897474	uncertain significance	ALG2-congenital disorder of glycosylation; Congenital myasthenic syndrome 14	2018-10-31	criteria provided, single submitter	clinical testing
Invitae	RCV000766035	SCV001012592	likely benign	ALG2-congenital disorder of glycosylation; Congenital myasthenic syndrome 14	2024-01-25	criteria provided, single submitter	clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	RCV002252128	SCV002523654	likely benign	See cases	2020-04-08	criteria provided, single submitter	clinical testing	ACMG classification criteria: BP1, BP4
PreventionGenetics, part of Exact Sciences	RCV003912763	SCV004733945	likely benign	ALG2-related condition	2020-03-23	criteria provided, single submitter	clinical testing	This variant is classified as likely 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)	RCV001572637	SCV001797317	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001572637	SCV001973732	likely benign	not provided		no assertion criteria provided	clinical testing