ClinVar Miner

Submissions for variant NM_001184880.1(PCDH19):c.79_2616+17371del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000818621 SCV000959243 likely pathogenic Early infantile epileptic encephalopathy 9 2018-10-16 criteria provided, single submitter clinical testing This variant is a deletion of the genomic region encompassing part of exon 1 and all of exons 2-3 of the PCDH19 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This specific variant has not been reported in the literature in individuals with PCDH19-related disease, although a similar deletion encompassing exons 1-3 has been reported in an individual with epilepsy (PMID: 21053371). Loss-of-function variants in PCDH19 are known to be pathogenic (PMID: 21053371). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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