ClinVar Miner

Submissions for variant NC_000023.10:g.(?_99657775)_(99662816_?)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 RCV001963022 SCV002230865 pathogenic Developmental and epileptic encephalopathy, 9 2021-07-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the PCDH19 protein in which other variant(s) (p.Pro561Ser) have been determined to be pathogenic (PMID: 23708187, 30287595). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. A similar copy number variant has been observed in individual(s) with clinical features of PCDH19-related conditions (Invitae). In at least one individual the variant was observed to be de novo. This variant results in the deletion of exon 2 and part of exons 1 and 3 (c.780_2363del) of the PCDH19 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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