ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.2876T>G (p.Leu959Arg) (rs1554897159)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544910 SCV000631130 uncertain significance Baller-Gerold syndrome 2017-06-14 criteria provided, single submitter clinical testing This sequence change replaces leucine with arginine at codon 959 of the RECQL4 protein (p.Leu959Arg). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and arginine. 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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