ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.1345A>C (p.Thr449Pro) (rs535692036)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000764764 SCV000895902 uncertain significance Baller-Gerold syndrome; Rapadilino syndrome; Rothmund-Thomson syndrome 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000532943 SCV000631000 uncertain significance Baller-Gerold syndrome 2018-03-15 criteria provided, single submitter clinical testing This sequence change replaces threonine with proline at codon 449 of the RECQL4 protein (p.Thr449Pro). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and proline. This variant is present in population databases (rs535692036, ExAC 0.09%). This variant has not been reported in the literature in individuals with a RECQL4-related disease. 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 C0"). The proline 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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