Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
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). |