ClinVar Miner

Submissions for variant NM_052845.4(MMAB):c.716T>A (p.Met239Lys) (rs9593)

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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 RCV000082328 SCV000114291 benign not specified 2016-08-16 criteria provided, single submitter clinical testing
GeneDx RCV000082328 SCV000170313 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.
PreventionGenetics,PreventionGenetics RCV000082328 SCV000315240 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000320735 SCV000375738 benign Methylmalonic acidemia 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000082328 SCV000539653 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Disclaimer: This variant has not undergone full assessment. The following are pr eliminary notes: 51% of total chromosomes in ExAC
Integrated Genetics/Laboratory Corporation of America RCV000590350 SCV000699776 benign not provided 2016-12-27 criteria provided, single submitter clinical testing Variant summary: The MMAB c.716T>A (p.Met239Lys) variant involves the alteration of a non-conserved nucleotide. 2/3 in silico tools predict a benign outcome for this variant. This variant was found in 61824/121354 control chromosomes (16355 homozygotes) at a frequency of 0.5094517, which is approximately 365 times the estimated maximal expected allele frequency of a pathogenic MMAB variant (0.0013944); thus this variant is a benign common polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as Benign.
Mendelics RCV000611494 SCV001138809 benign Methylmalonic aciduria cblB type 2019-05-28 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000611494 SCV000733127 benign Methylmalonic aciduria cblB type no assertion criteria provided clinical testing

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