ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.172G>T (p.Ala58Ser)

gnomAD frequency: 0.00005  dbSNP: rs763745318
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000717159 SCV000848007 uncertain significance History of neurodevelopmental disorder 2017-02-03 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.
Invitae RCV001217909 SCV001389769 uncertain significance Developmental and epileptic encephalopathy, 9 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 58 of the PCDH19 protein (p.Ala58Ser). This variant is present in population databases (rs763745318, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with PCDH19-related conditions. ClinVar contains an entry for this variant (Variation ID: 588339). 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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