Submissions for variant NM_000255.4(MMUT):c.1629C>T (p.Ser543=)

gnomAD frequency: 0.00479  dbSNP: rs150642856

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078441	SCV000110294	benign	not specified	2013-02-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000527658	SCV000463863	uncertain significance	Methylmalonic aciduria due to methylmalonyl-CoA mutase 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, 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.
GeneDx	RCV000078441	SCV000513728	benign	not specified	2015-04-06	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	RCV000859344	SCV000641774	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000859344	SCV001154764	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	MMUT: BP4, BP7, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000527658	SCV001159177	benign	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	2023-10-23	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000527658	SCV001653378	likely benign	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	2021-05-18	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000527658	SCV000734502	likely benign	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001276635	SCV001463087	benign	Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency	2020-09-16	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000859344	SCV001920774	likely benign	not provided		no assertion criteria provided	clinical testing