ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2921A>C (p.Gln974Pro)

dbSNP: rs1211978587
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001971337 SCV002266788 uncertain significance Peroxisome biogenesis disorder 2021-09-17 criteria provided, single submitter clinical testing This sequence change replaces glutamine with proline at codon 974 of the PEX6 protein (p.Gln974Pro). The glutamine residue is moderately conserved and there is a moderate physicochemical difference between glutamine and proline. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PEX6-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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