ClinVar Miner

Submissions for variant NC_000005.10:g.(?_88722584)_(88823808_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001033264 SCV001196571 pathogenic Intellectual disability, autosomal dominant 20 2022-08-31 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the MEF2C gene has been identified. Loss-of-function variants in MEF2C are known to be pathogenic (PMID: 20513142). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. A similar copy number variant has been observed in individual(s) with MEF2C-related condition (PMID: 27748065). In at least one individual the variant was observed to be de novo. For these reasons, this variant has been classified as Pathogenic.

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