ClinVar Miner

Submissions for variant NM_002397.5(MEF2C):c.258+5G>C

dbSNP: rs2153073717
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001775320 SCV002012107 likely pathogenic Intellectual disability, autosomal dominant 20 2021-10-02 criteria provided, single submitter clinical testing The variant was observed as assumed (i.e. paternity and maternity not confirmed) de novoo (3billion dataset, PM6). It is not observed in the gnomAD v2.1.1 dataset (PM2). In silico tools predict the variant to alter splicing and produce an abnormal transcript (RF:0.81; ADA:0.99, Splice AI: 0.89, PP3 ). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

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