ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.496T>G (p.Tyr166Asp)

dbSNP: rs2520993906
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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 RCV003510279 SCV004330466 pathogenic Developmental and epileptic encephalopathy, 9 2024-09-01 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 166 of the PCDH19 protein (p.Tyr166Asp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of developmental and epileptic encephalopathy (internal data). In at least one individual the variant was observed to be de novo. Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt PCDH19 protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.

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