ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2441G>A (p.Arg814Gln)

gnomAD frequency: 0.00001  dbSNP: rs757780839
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001324362 SCV001515313 uncertain significance Peroxisome biogenesis disorder 2022-08-31 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 814 of the PEX6 protein (p.Arg814Gln). This variant is present in population databases (rs757780839, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with PEX6-related conditions. ClinVar contains an entry for this variant (Variation ID: 1024206). 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 tolerated. 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. RCV001830359 SCV002077277 uncertain significance Zellweger spectrum disorders 2020-11-10 no assertion criteria provided clinical testing

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