ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.410C>T (p.Ala137Val) (rs527934999)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ITMI RCV000121964 SCV000086171 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000634222 SCV000755525 uncertain significance Baller-Gerold syndrome 2018-12-03 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 137 of the RECQL4 protein (p.Ala137Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs527934999, ExAC 0.009%). This variant has not been reported in the literature in individuals with RECQL4-related disease. ClinVar contains an entry for this variant (Variation ID: 135163). 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 and their clinical significance is uncertain. 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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