ClinVar Miner

Submissions for variant NM_002755.4(MAP2K1):c.729G>A (p.Gln243=)

gnomAD frequency: 0.00005  dbSNP: rs772752167
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001439799 SCV001642693 likely benign RASopathy 2023-11-27 criteria provided, single submitter clinical testing
GeneDx RCV001685355 SCV001898056 likely benign not provided 2021-06-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002384669 SCV002674260 likely benign Cardiovascular phenotype 2020-12-18 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.
CeGaT Center for Human Genetics Tuebingen RCV001685355 SCV004184469 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing MAP2K1: BP4
PreventionGenetics, part of Exact Sciences RCV004734190 SCV005349128 likely benign MAP2K1-related disorder 2024-07-10 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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