Submissions for variant NM_000254.3(MTR):c.155G>A (p.Arg52Gln)

gnomAD frequency: 0.00417  dbSNP: rs12749581

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000986574	SCV000763828	benign	Methylcobalamin deficiency type cblG	2024-01-31	criteria provided, single submitter	clinical testing
Mendelics	RCV000986574	SCV001135594	likely benign	Methylcobalamin deficiency type cblG	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001099441	SCV001255896	likely benign	Disorders of Intracellular Cobalamin Metabolism	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV001706693	SCV001896608	benign	not provided	2020-03-23	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 31139930, 25533962, 29474406)
CeGaT Center for Human Genetics Tuebingen	RCV001706693	SCV004126186	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	MTR: BP4, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001706693	SCV004563870	likely benign	not provided	2023-08-24	criteria provided, single submitter	clinical testing