Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001218626 | SCV001390514 | uncertain significance | Developmental and epileptic encephalopathy, 9 | 2022-12-02 | 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 947530). This variant has not been reported in the literature in individuals affected with PCDH19-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 547 of the PCDH19 protein (p.Ala547Pro). |
Institute of Medical Genetics and Applied Genomics, |
RCV001543523 | SCV001762147 | likely pathogenic | not provided | 2021-06-17 | criteria provided, single submitter | clinical testing | |
Pediatric Department, |
RCV001218626 | SCV002583535 | likely pathogenic | Developmental and epileptic encephalopathy, 9 | 2022-06-01 | criteria provided, single submitter | research |