Submissions for variant NM_005957.5(MTHFR):c.1761C>T (p.Ala587=)

gnomAD frequency: 0.00145  dbSNP: rs115049252

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000733915	SCV000862020	uncertain significance	not provided	2018-07-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001086227	SCV001001505	benign	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	2024-01-30	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV001086227	SCV001652883	likely benign	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	2021-05-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002411180	SCV002716751	likely benign	Inborn genetic diseases	2022-05-24	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc.	RCV001086227	SCV001459041	likely benign	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	2019-11-11	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000733915	SCV001931064	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000733915	SCV001972510	likely benign	not provided		no assertion criteria provided	clinical testing