ClinVar Miner

Submissions for variant NC_000023.10:g.(?_99661873)_(99700255_?)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 RCV004581705 SCV005065809 pathogenic Developmental and epileptic encephalopathy, 9 2023-05-01 criteria provided, single submitter clinical testing This variant disrupts a region of the PCDH19 protein in which other variant(s) (p.Pro567Leu) have been determined to be pathogenic (PMID: 21053371, 30530412). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with PCDH19-related conditions. This variant results in the deletion of part of exon 1 (c.-36660_1723del) of the PCDH19 gene.

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