ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.3070G>A (p.Asp1024Asn)

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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 RCV003623384 SCV004457841 uncertain significance Developmental and epileptic encephalopathy, 9 2024-01-04 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1024 of the PCDH19 protein (p.Asp1024Asn). This variant is present in population databases (no rsID available, gnomAD 0.02%). This missense change has been observed in individual(s) with autism and/or hyperphosphatasia with intellectual disability syndrome (PMID: 27177984, 36980870). This variant is also known as c.2926G>A (Asp976Asn). 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 not expected to disrupt PCDH19 protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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