ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.688G>A (p.Asp230Asn)

dbSNP: rs1928439241
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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 RCV001298996 SCV001488072 pathogenic Developmental and epileptic encephalopathy, 9 2022-05-27 criteria provided, single submitter clinical testing 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: 1002551). This missense change has been observed in individual(s) with clinical features of PCDH19-related conditions (PMID: 26993267, 33262389). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 230 of the PCDH19 protein (p.Asp230Asn).

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