ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.1961A>G (p.Gln654Arg) (rs534627012)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226453 SCV000288204 uncertain significance Baller-Gerold syndrome 2016-01-18 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 654 of the RECQL4 protein (p.Gln654Arg). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and arginine. This variant is present in population databases (rs534627012, ExAC <0.01%) but has not been reported in the literature in individuals with a RECQL4-related disease. The arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. Furthermore, algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this is a rare missense change that is not predicted to affect protein function or cause disease. However, the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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