Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000498272 | SCV000590174 | uncertain significance | not provided | 2023-08-14 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 24807205) |
Invitae | RCV001865565 | SCV002281828 | uncertain significance | Cortical dysplasia-focal epilepsy syndrome | 2021-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces phenylalanine with serine at codon 469 of the CNTNAP2 protein (p.Phe469Ser). The phenylalanine residue is moderately conserved and there is a large physicochemical difference between phenylalanine and serine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with developmental stuttering (PMID: 24807205). ClinVar contains an entry for this variant (Variation ID: 432449). 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 tolerated. 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. |
Ce |
RCV000498272 | SCV004161272 | uncertain significance | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | CNTNAP2: PM2:Supporting |