ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2111G>C (p.Trp704Ser)

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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 RCV002638608 SCV003521220 uncertain significance Peroxisome biogenesis disorder 2022-07-24 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 704 of the PEX6 protein (p.Trp704Ser). This variant is present in population databases (rs774799323, gnomAD 0.002%). 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 (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.
PreventionGenetics, part of Exact Sciences RCV004550450 SCV004736631 uncertain significance PEX6-related disorder 2023-10-18 no assertion criteria provided clinical testing The PEX6 c.2111G>C variant is predicted to result in the amino acid substitution p.Trp704Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0023% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-42934169-C-G). 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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