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 RCV000611494 SCV000375738 benign Vitamin B12-responsive methylmalonic acidemia type cblB 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 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 Vitamin B12-responsive methylmalonic acidemia type cblB 2019-05-28 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000611494 SCV000733127 benign Vitamin B12-responsive methylmalonic acidemia type cblB no assertion criteria provided clinical testing

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