ClinVar Miner

Submissions for variant NM_002755.4(MAP2K1):c.156C>T (p.Ala52=)

gnomAD frequency: 0.00003  dbSNP: rs147489724
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Total submissions: 4
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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 RCV000151007 SCV000198700 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Ala52Ala in exon 02 of MAP2K1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence. It has been identified in 2/7020 European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs147489724).
Labcorp Genetics (formerly Invitae), Labcorp RCV000868382 SCV001009708 likely benign RASopathy 2024-01-21 criteria provided, single submitter clinical testing
GeneDx RCV001610307 SCV001837944 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298040 SCV003995390 likely benign Cardiovascular phenotype 2023-05-15 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.

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