ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.686G>A (p.Arg229Lys)

gnomAD frequency: 0.00001  dbSNP: rs1260446318
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594178 SCV000702499 uncertain significance not provided 2016-10-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001234513 SCV001407164 uncertain significance Peroxisome biogenesis disorder 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 229 of the PEX6 protein (p.Arg229Lys). This variant is present in population databases (no rsID available, 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: 497789). 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. RCV001835863 SCV002077336 uncertain significance Zellweger spectrum disorders 2019-10-28 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004737857 SCV005363484 uncertain significance PEX6-related disorder 2024-06-11 no assertion criteria provided clinical testing The PEX6 c.686G>A variant is predicted to result in the amino acid substitution p.Arg229Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.014% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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