ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1595G>A (p.Arg532His) (rs1141321)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078440 SCV000110293 benign not specified 2013-06-20 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078440 SCV000303174 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000605097 SCV000463865 benign 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 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000078440 SCV000539811 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 32% of total chromosomes in ExAC
Integrated Genetics/Laboratory Corporation of America RCV000590408 SCV000696304 benign not provided 2017-01-23 criteria provided, single submitter clinical testing Variant summary: The MUT c.1595G>A (p.Arg532His) variant involves the alteration of a non-conserved nucleotide. 3/4 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 39104/121218 control chromosomes (6814 homozygotes) at a frequency of 0.3225924, which is approximately 134 times the estimated maximal expected allele frequency of a pathogenic MUT variant (0.0024152), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as benign.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000605097 SCV000743910 benign Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2014-10-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000078440 SCV001159031 benign not specified 2018-07-12 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000605097 SCV000734503 benign Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency no assertion criteria provided clinical testing

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