Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001229629 | SCV001402082 | uncertain significance | Baller-Gerold syndrome | 2019-10-19 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with RECQL4-related conditions. 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: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces lysine with glutamic acid at codon 261 of the RECQL4 protein (p.Lys261Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamic acid. |