ClinVar Miner

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

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Total submissions: 7
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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 RCV000304285 SCV000463865 likely benign Methylmalonic acidemia 2016-06-14 criteria provided, single submitter clinical testing
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
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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