ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.3265C>A (p.Pro1089Thr)

gnomAD frequency: 0.00001  dbSNP: rs769890364
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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 RCV001982178 SCV002216950 uncertain significance Developmental and epileptic encephalopathy, 9 2022-03-13 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1089 of the PCDH19 protein (p.Pro1089Thr). This variant is present in population databases (rs769890364, gnomAD 0.001%). This variant has not been reported in the literature in individuals affected with PCDH19-related conditions. 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. 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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