Submissions for variant NM_000255.4(MMUT):c.1992G>A (p.Ala664=)

gnomAD frequency: 0.00839  dbSNP: rs144146728

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078443	SCV000110296	benign	not specified	2013-02-22	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000078443	SCV000303175	benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV001507127	SCV000641775	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000203396	SCV001322638	likely benign	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	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	RCV001507127	SCV001893358	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
GeneReviews	RCV000203396	SCV000258488	not provided	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency		no assertion provided	literature only
Natera, Inc.	RCV001276631	SCV001463083	benign	Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency	2020-09-16	no assertion criteria provided	clinical testing