Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000798607 | SCV000938231 | uncertain significance | Baraitser-Winter syndrome | 2018-12-11 | criteria provided, single submitter | clinical testing | This sequence change replaces valine with leucine at codon 103 of the ACTB protein (p.Val103Leu). The valine residue is highly conserved and there is a small physicochemical difference between valine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with some clinical features of Baraitser–Winter malformation syndrome (PMID: 25052316). ClinVar contains an entry for this variant (Variation ID: 127165). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. |
| Department of Genetics, |
RCV000133568 | SCV000148638 | pathogenic | Baraitser-Winter syndrome 1 | 2014-04-15 | no assertion criteria provided | clinical testing |