Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001066620 | SCV001231635 | uncertain significance | Baller-Gerold syndrome | 2019-12-07 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs772388357, ExAC 0.01%). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with RECQL4-related conditions. This sequence change replaces phenylalanine with leucine at codon 342 of the RECQL4 protein (p.Phe342Leu). The phenylalanine residue is weakly conserved and there is a small physicochemical difference between phenylalanine and leucine. |