ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.145A>C (p.Lys49Gln) (rs1046890336)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000460578 SCV000545909 uncertain significance Baller-Gerold syndrome 2018-11-17 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamine at codon 49 of the RECQL4 protein (p.Lys49Gln). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamine. 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. ClinVar contains an entry for this variant (Variation ID: 406941). 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 C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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