ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2357G>A (p.Arg786Gln)

gnomAD frequency: 0.00004  dbSNP: rs758572546
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001368879 SCV001565295 uncertain significance Peroxisome biogenesis disorder 2021-12-02 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 786 of the PEX6 protein (p.Arg786Gln). This variant is present in population databases (rs758572546, gnomAD 0.004%). 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: 1059567). 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 disruptive. 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.
GeneDx RCV001762643 SCV001991597 uncertain significance not provided 2019-08-12 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001826073 SCV002077281 uncertain significance Zellweger spectrum disorders 2020-03-24 no assertion criteria provided clinical testing

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