Submissions for variant NM_005957.5(MTHFR):c.1555C>T (p.Arg519Cys)

gnomAD frequency: 0.00176  dbSNP: rs45496998

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000863750	SCV001004460	benign	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	2024-12-17	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002478959	SCV002802178	likely benign	Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Neural tube defects, folate-sensitive; Schizophrenia; Thrombophilia due to thrombin defect	2021-07-29	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001579355	SCV005286552	benign	not provided		criteria provided, single submitter	not provided
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	RCV001252319	SCV001428071	likely benign	Intellectual disability	2019-01-01	no assertion criteria provided	clinical testing
Natera, Inc.	RCV000863750	SCV001459044	uncertain significance	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	2020-01-09	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579355	SCV001806899	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001579355	SCV001919136	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001579355	SCV001973307	uncertain significance	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003938250	SCV004747223	likely benign	MTHFR-related disorder	2023-10-12	no assertion criteria provided	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).