ClinVar Miner

Submissions for variant NC_000012.12:g.(?_115961246)_(116096772_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001033546 SCV001196853 pathogenic Transposition of the great arteries, dextro-looped 2019-07-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Sub-genic deletion of exons 6-20 has been determined to be pathogenic (PMID: 24781760). Therefore, deletions that fully encompass that region are also expected to be pathogenic. This variant has not been reported in the literature in individuals with MED13L-related conditions. This variant is a gross deletion of the genomic region encompassing exons 4-31 of the MED13L gene. The 5' boundary is likely confined to intron 3. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation.

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