ClinVar Miner

Submissions for variant NC_000023.10:g.(?_99596891)_(99597083_?)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 RCV001385828 SCV001585806 pathogenic Developmental and epileptic encephalopathy, 9 2020-06-19 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 5 of the PCDH19 gene. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product. This variant has not been reported in the literature in individuals with PCDH19-related conditions. This variant disrupts the C-terminus of the PCDH19 protein. Other variant(s) that disrupt this region (p.Asp968Glufs*18) have been determined to be pathogenic (PMID: 30451291). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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