ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.634C>G (p.Leu212Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000804239 SCV000944136 uncertain significance Baller-Gerold syndrome 2018-11-09 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 212 of the RECQL4 protein (p.Leu212Val). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and valine. This variant is not present in population databases (ExAC no frequency). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Not Available"; 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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