ClinVar Miner

Submissions for variant NM_030662.4(MAP2K2):c.-4C>G

gnomAD frequency: 0.00026  dbSNP: rs747742961
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719091 SCV000729256 likely benign not provided 2023-03-13 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987621 SCV004803424 uncertain significance not specified 2024-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004025003 SCV005029067 uncertain significance Cardiovascular phenotype 2024-03-05 criteria provided, single submitter clinical testing The c.-4C>G variant is located in the 5' untranslated region (5’ UTR) of the MAP2K2 gene. This variant results from a C to G substitution 4 bases upstream from the first translated codon. This nucleotide position is highly conserved in available vertebrate species. Based on the available evidence, the clinical significance of this alteration remains unclear.

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