Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000516258 | SCV000614417 | uncertain significance | not specified | 2016-09-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001857916 | SCV002199775 | uncertain significance | Developmental and epileptic encephalopathy, 9 | 2022-01-11 | 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 447919). This variant has not been reported in the literature in individuals affected with PCDH19-related conditions. This variant is present in population databases (rs369379155, gnomAD 0.004%). This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 933 of the PCDH19 protein (p.Asp933Gly). |