ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.2372G>A (p.Arg791Gln)

gnomAD frequency: 0.00002  dbSNP: rs886042264
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000364391 SCV000332970 uncertain significance not provided 2015-10-16 criteria provided, single submitter clinical testing
Invitae RCV001372184 SCV001568794 uncertain significance Developmental and epileptic encephalopathy, 9 2023-03-20 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 281920). This missense change has been observed in individual(s) with clinical features of PCDH19-related conditions (Invitae). This variant is present in population databases (no rsID available, gnomAD 0.005%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 791 of the PCDH19 protein (p.Arg791Gln).

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