ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.3065G>C (p.Arg1022Pro) (rs560476442)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000530861 SCV000631149 uncertain significance Baller-Gerold syndrome 2017-06-22 criteria provided, single submitter clinical testing This sequence change replaces arginine with proline at codon 1022 of the RECQL4 protein (p.Arg1022Pro). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and proline. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a 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 0"). In summary, this variant has uncertain impact on RECQL4 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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