ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.2939G>A (p.Arg980His)

gnomAD frequency: 0.00005  dbSNP: rs368872920
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188317 SCV000241928 likely benign not specified 2015-07-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001304498 SCV001493779 uncertain significance Developmental and epileptic encephalopathy, 9 2023-05-22 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 206283). This variant has not been reported in the literature in individuals affected with PCDH19-related conditions. This variant is present in population databases (rs368872920, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 980 of the PCDH19 protein (p.Arg980His). 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. 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.

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