ClinVar Miner

Submissions for variant NM_002755.3(MAP2K1):c.694-12TC[4] (rs113913469)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000521169 SCV000616536 benign Rasopathy 2017-05-09 reviewed by expert panel curation The filtering allele frequency of the c.694-8_694-7dupTC variant in the MAP2K1 gene is 4.97% for African chromosomes by the Exome Aggregation Consortium (515/10368 with 95% CI), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert panel for autosomal dominant RASopathy variants (BA1). This variant has been identified in a patient with an alternate molecular basis for disease (BP5; GeneDx, Partners LMM, EGL genetics internal data 26957, 21766, 500060; ClinVar SCV000111925.5; SCV000204171.4; SCV000207934.6). In summary, this variant meets criteria to be classified as benign. RASopathy-specific ACMG/AMP criteria applied (PMID:29493581): BA1, BP5.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080031 SCV000111925 benign not specified 2013-05-21 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000080031 SCV000204171 benign not specified 2011-05-05 criteria provided, single submitter clinical testing 694-8_694-7dupTC in intron 6 of MEK1: This variant (rs 113913469, no frequency i nformation) is not expected to have clinical significance because it has been id entified in as many as 0.94% (12/1275) probands including 11.8% (8/68) Black pro bands in our laboratory and is not located in the highly conserved region of the splicing consensus sequence. In addition, it has been identified in four other individuals with clinical features of Noonan spectrum disorders and another path ogenic variant tested by our laboratory.
GeneDx RCV000080031 SCV000207934 benign not specified 2014-06-16 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 RCV000080031 SCV000309176 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000284919 SCV000393411 likely benign Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000328312 SCV000393412 likely benign Cardio-facio-cutaneous syndrome 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000419051 SCV000511027 benign not provided 2017-01-05 criteria provided, single submitter clinical testing

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