ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.1810A>G (p.Ile604Val)

gnomAD frequency: 0.00001  dbSNP: rs1467801930
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001052002 SCV001216187 uncertain significance Baller-Gerold syndrome 2021-09-29 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 604 of the RECQL4 protein (p.Ile604Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with RECQL4-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Not Available"; Align-GVGD: "Not Available". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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