ClinVar Miner

Submissions for variant NM_030662.4(MAP2K2):c.167C>A (p.Ala56Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV003152996 SCV003841652 likely pathogenic Cardiofaciocutaneous syndrome 4 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. The variant is located in a mutational hot spot and/or well-established functional domain in which established pathogenic variants have been reported. Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.70; 3Cnet: 0.84). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.

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