ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.3154T>A (p.Cys1052Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000691997 SCV000819802 uncertain significance Baller-Gerold syndrome 2018-02-22 criteria provided, single submitter clinical testing This sequence change replaces cysteine with serine at codon 1052 of the RECQL4 protein (p.Cys1052Ser). The cysteine residue is highly conserved and there is a moderate physicochemical difference between cysteine and serine. This variant is present in population databases (rs573929442, 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: "Possibly 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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