Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001243702 | SCV001416876 | likely pathogenic | Baraitser-Winter syndrome 1 | 2019-08-07 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid with phenylalanine at codon 3 of the ACTB protein (p.Asp3Phe). The aspartic acid residue is moderately conserved and there is a large physicochemical difference between aspartic acid and phenylalanine. This variant is not present in population databases (ExAC no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has been observed to be de novo in an individual with clinical features of Baraitser-Winter syndrome (Invitae). |