ClinVar

Description

This sequence change replaces arginine with tryptophan at codon 766 of the RECQL4 protein (p.Arg766Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. While this variant is present in population databases (rs751427839), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with RECQL4-related conditions. ClinVar contains an entry for this variant (Variation ID: 658248). Experimental studies and prediction algorithms are not available or were not evaluated. The tryptophan amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.