Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001050561 | SCV001214676 | uncertain significance | Baller-Gerold syndrome | 2021-12-25 | criteria provided, single submitter | clinical testing | This sequence change replaces cysteine, which is neutral and slightly polar, with glycine, which is neutral and non-polar, at codon 925 of the RECQL4 protein (p.Cys925Gly). 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. ClinVar contains an entry for this variant (Variation ID: 847089). This variant has not been reported in the literature in individuals affected with RECQL4-related conditions. This variant is present in population databases (rs765510227, gnomAD 0.007%). |