ClinVar Miner

Submissions for variant NC_000002.11:g.(?_24443763)_(26029226_?)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 RCV003113869 SCV003796962 pathogenic Tatton-Brown-Rahman overgrowth syndrome 2022-08-31 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the DNMT3A gene has been identified. Loss-of-function variants in DNMT3A are known to be pathogenic (PMID: 24614070). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. Isolated whole-gene deletions of DNMT3A have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 26866722, 29900417). For these reasons, this variant has been classified as Pathogenic.

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