ClinVar Miner

Submissions for variant NM_002755.4(MAP2K1):c.726G>T (p.Val242=)

gnomAD frequency: 0.00013  dbSNP: rs373745627
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037600 SCV000061260 likely benign not specified 2012-09-20 criteria provided, single submitter clinical testing Val242Val in exon 7 of MAP2K1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and it is not located within the splice consensus sequence. It has been identified in 1/4402 African American chromosomes from a broad population by the NHLBI Exome Sequencing Proje ct (http://evs.gs.washington.edu/EVS; dbSNP rs143019052).
Labcorp Genetics (formerly Invitae), Labcorp RCV000655000 SCV000776916 likely benign RASopathy 2023-12-01 criteria provided, single submitter clinical testing
GeneDx RCV001588850 SCV001824997 likely benign not provided 2021-05-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381305 SCV002671508 likely benign Cardiovascular phenotype 2022-07-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV004541111 SCV004785503 likely benign MAP2K1-related disorder 2022-05-10 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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