ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.2138A>G (p.Gln713Arg)

gnomAD frequency: 0.00001  dbSNP: rs1356967048
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001830703 SCV000934344 uncertain significance Zellweger spectrum disorders 2022-08-21 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 713 of the PEX1 protein (p.Gln713Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PEX1-related conditions. ClinVar contains an entry for this variant (Variation ID: 641630). 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. RCV001830703 SCV002076875 uncertain significance Zellweger spectrum disorders 2019-02-18 no assertion criteria provided clinical testing

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