ClinVar Miner

Submissions for variant NM_030662.3(MAP2K2):c.893C>T (p.Pro298Leu) (rs200371894)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000227476 SCV000616566 benign Rasopathy 2017-05-09 reviewed by expert panel curation The filtering allele frequency of the c.893C>T (p.Pro298Leu) variant in the MAP2K2 gene is 0.953% (68/5776) of East Asian chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BA1; PMID:29493581)
GeneDx RCV000154492 SCV000207951 benign not specified 2015-08-17 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.
Integrated Genetics/Laboratory Corporation of America RCV000586661 SCV000699648 benign not provided 2016-10-24 criteria provided, single submitter clinical testing Variant summary: The MAP2K2 c.893C>T (p.Pro298Leu) variant involves the alteration of a conserved nucleotide. 3/5 in silico tools predict a damaging outcome for this variant. This variant was found in 79/73910 control chromosomes (2 homozygotes), predominantly observed in the East Asian subpopulation at a frequency of 0.0117729 (68/5776). This frequency greatly exceeds the estimated maximal expected allele frequency of a pathogenic MAP2K2 variant (0.0000025), srong evidence this is a benign polymorphism found primarily in the populations of East Asian origin. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
Invitae RCV000227476 SCV000290943 benign Rasopathy 2017-10-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154492 SCV000204162 benign not specified 2015-10-22 criteria provided, single submitter clinical testing p.Pro298Leu in exon 7 of MAP2K2: This variant is not expected to have clinical s ignificance because it has been identified in 1.2% (68/5776) of East Asian chrom osomes, including 2 homozygotes, by the Exome Aggregation Consortium (ExAC, http ://exac.broadinstitute.org; dbSNP rs200371894).

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