ClinVar Miner

Submissions for variant NM_002397.5(MEF2C):c.161T>C (p.Leu54Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV005253375 SCV005904618 uncertain significance Intellectual disability, autosomal dominant 20 2024-01-11 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Predicted Consequence/Location: Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product [REVEL: 0.94 (>=0.6, sensitivity 0.68 and specificity 0.92); 3Cnet: 0.98 (>=0.6, sensitivity 0.72 and precision 0.9)]. Therefore, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline.

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