ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.3364G>A (p.Ala1122Thr) (rs369843844)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000634303 SCV000755606 uncertain significance Baller-Gerold syndrome 2018-10-11 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 1122 of the RECQL4 protein (p.Ala1122Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs369843844, ExAC 0.05%). This variant has not been reported in the literature in individuals with RECQL4-related disease. ClinVar contains an entry for this variant (Variation ID: 529006). 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 threonine 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 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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