Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001204654 | SCV001375870 | uncertain significance | Baller-Gerold syndrome | 2019-09-05 | 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. This variant has been reported to affect RECQL4 protein function (PMID: 28653661). This variant has not been reported in the literature in individuals with RECQL4-related conditions. This variant is present in population databases (rs754403044, ExAC 0.01%). This sequence change replaces phenylalanine with leucine at codon 617 of the RECQL4 protein (p.Phe617Leu). The phenylalanine residue is highly conserved conserved and there is a small physicochemical difference between phenylalanine and leucine. |