ClinVar Miner

Submissions for variant NM_002755.3(MAP2K1):c.927A>T (p.Ala309=) (rs146869577)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000467423 SCV000616556 benign Rasopathy 2017-05-09 reviewed by expert panel curation The filtering allele frequency of the c.927A>T (p.Ala309=) variant in the MAP2K1 gene is 1.307% (156/10406) of African 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)
Illumina Clinical Services Laboratory,Illumina RCV000385173 SCV000393413 likely benign Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000288068 SCV000393414 likely benign Cardio-facio-cutaneous syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000467423 SCV000556850 benign Rasopathy 2017-12-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154534 SCV000204206 benign not specified 2013-05-03 criteria provided, single submitter clinical testing Ala309Ala in Exon 08 of MEK1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence and has been identified in 1.0% (39/3738) of Afric an American chromosomes from a broad population by the NHLBI Exome Sequencing Pr oject (http://evs.gs.washington.edu/EVS; dbSNP rs146869577).
PreventionGenetics RCV000154534 SCV000309178 benign not specified criteria provided, single submitter clinical testing

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