ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.2848+1G>A

dbSNP: rs2520674759
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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 RCV003623396 SCV004461679 pathogenic Developmental and epileptic encephalopathy, 9 2023-04-28 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 5 of the PCDH19 gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PCDH19-related conditions. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant disrupts a region of the PCDH19 protein in which other variant(s) (p.Tyr1083Serfs*47) have been determined to be pathogenic (Invitae). 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.

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