ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1406G>A (p.Arg469Gln)

gnomAD frequency: 0.00002  dbSNP: rs773105735
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001246413 SCV001419766 uncertain significance Peroxisome biogenesis disorder 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 469 of the PEX6 protein (p.Arg469Gln). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs773105735, ExAC 0.009%). This variant has not been reported in the literature in individuals affected with PEX6-related conditions. 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 glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Natera, Inc. RCV001829990 SCV002077314 uncertain significance Zellweger spectrum disorders 2020-02-13 no assertion criteria provided clinical testing

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