Submissions for variant NM_032601.4(MCEE):c.102C>G (p.Pro34=)

gnomAD frequency: 0.00646  dbSNP: rs146573280

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000175960	SCV000227538	benign	not specified	2015-05-19	criteria provided, single submitter	clinical testing
GeneDx	RCV000175960	SCV000518815	benign	not specified	2016-05-02	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.
Invitae	RCV000642152	SCV000763806	benign	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000642152	SCV001302630	uncertain significance	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	2018-01-12	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
CeGaT Center for Human Genetics Tuebingen	RCV001726020	SCV001962259	likely benign	not provided	2021-09-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000642152	SCV003799878	benign	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	2023-11-08	criteria provided, single submitter	clinical testing