Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001219985 | SCV001391954 | uncertain significance | Baller-Gerold syndrome | 2021-10-06 | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Not Available"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals affected with RECQL4-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 785 of the RECQL4 protein (p.Ala785Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. |