ClinVar Miner

Submissions for variant NC_000023.10:g.(?_99551255)_(99905882_?)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 RCV001033048 SCV001196355 pathogenic Developmental and epileptic encephalopathy, 9 2019-10-14 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the PCDH19 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Whole gene deletions of PCDH19 have been observed in individuals affected with epileptic encephalopathy (PMID: 27179713, 29377098, 23712037) and have been observed to be de novo in several of these individuals (PMID: 29377098, 23712037). Loss-of-function variants in PCDH19 are known to be pathogenic (PMID: 21053371). For these reasons, this variant has been classified as Pathogenic.

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