ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.1099C>T (p.Arg367Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000702933 SCV000831810 uncertain significance Baller-Gerold syndrome 2018-09-24 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 367 of the RECQL4 protein (p.Arg367Trp). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs531175632, ExAC 0.01%). This variant has not been reported in the literature in individuals with RECQL4-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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