Submissions for variant NM_005957.5(MTHFR):c.732C>T (p.Thr244=)

gnomAD frequency: 0.00082  dbSNP: rs45486194

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000861927	SCV001002348	benign	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	2024-01-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002381911	SCV002668833	likely benign	Inborn genetic diseases	2022-03-25	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.	RCV000861927	SCV002094644	likely benign	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	2020-06-11	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003975378	SCV004795613	likely benign	MTHFR-related disorder	2019-02-18	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).