ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.1649C>T (p.Ala550Val) (rs764297840)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000764760 SCV000895898 uncertain significance Baller-Gerold syndrome; Rapadilino syndrome; Rothmund-Thomson syndrome 2018-10-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000195242 SCV000248688 uncertain significance not specified 2015-07-14 criteria provided, single submitter clinical testing
Invitae RCV000456938 SCV000545989 uncertain significance Baller-Gerold syndrome 2018-11-23 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 550 of the RECQL4 protein (p.Ala550Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs764297840, ExAC 0.01%). This variant has not been reported in the literature in individuals with RECQL4-related disease. ClinVar contains an entry for this variant (Variation ID: 212027). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15". The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies. 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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