ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.3172C>G (p.Arg1058Gly) (rs375297971)

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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 RCV000766001 SCV000897433 uncertain significance Baller-Gerold syndrome; Rapadilino syndrome; Rothmund-Thomson syndrome 2018-10-31 criteria provided, single submitter clinical testing
ITMI RCV000121945 SCV000086152 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000470955 SCV000545982 uncertain significance Baller-Gerold syndrome 2018-12-10 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 1058 of the RECQL4 protein (p.Arg1058Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is present in population databases (rs375297971, ExAC 0.2%). This variant has not been reported in the literature in individuals with a RECQL4-related disease. ClinVar contains an entry for this variant (Variation ID: 135144). 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 disruptive, but these predictions have not been confirmed by published functional studies. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional 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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