ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.1652C>T (p.Ala551Val) (rs587778643)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ITMI RCV000121928 SCV000086133 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000459591 SCV000545866 uncertain significance Baller-Gerold syndrome 2016-07-28 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 551 of the RECQL4 protein (p.Ala551Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs587778643, ExAC 0.009%) but has not been reported in the literature in individuals with a RECQL4-related disease. ClinVar contains an entry for this variant (Variation ID: 135127). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: (SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class 0"). The valine amino acid residue is also 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. Algorithms developed to predict the effect of sequence changes on mRNA splicing suggest that this variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant is a rare missense change that is not predicted by in silico methods to affect protein function, but is predicted to affect splicing. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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