Submissions for variant NM_032601.4(MCEE):c.227C>T (p.Ala76Val)

gnomAD frequency: 0.26738  dbSNP: rs11541017

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000126701	SCV000170211	benign	not specified	2013-05-29	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Laboratory Services, Illumina	RCV000279982	SCV000431665	benign	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV000279982	SCV001733488	benign	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000279982	SCV002014119	benign	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	2021-09-05	criteria provided, single submitter	clinical testing