ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu)

dbSNP: rs369638371
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV000853589 SCV000996556 likely pathogenic Developmental and epileptic encephalopathy, 9 2019-05-10 criteria provided, single submitter clinical testing
Invitae RCV000853589 SCV001235823 pathogenic Developmental and epileptic encephalopathy, 9 2021-12-30 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with clinical features of developmental and epileptic encephalopathy (PMID: 30945278, 33262389). In at least one individual the variant was observed to be de novo. For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PCDH19 protein function. ClinVar contains an entry for this variant (Variation ID: 692247). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 266 of the PCDH19 protein (p.Asp266Glu).
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000853589 SCV001368769 uncertain significance Developmental and epileptic encephalopathy, 9 2019-04-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence favors the pathogenic nature of this variant, however the currently available data is insufficient to conclusively support its pathogenic nature. Thus this variant is classified as Uncertain significance - favor pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PP3.
Baylor Genetics RCV000853589 SCV001523910 likely pathogenic Developmental and epileptic encephalopathy, 9 2019-03-01 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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