ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.52T>C (p.Phe18Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000701544 SCV000830347 uncertain significance Baller-Gerold syndrome 2018-12-18 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 18 of the RECQL4 protein (p.Phe18Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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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