ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.3038G>A (p.Arg1013His)

dbSNP: rs1484321655
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666769 SCV000791119 uncertain significance Peroxisome biogenesis disorder 1A (Zellweger) 2017-05-02 criteria provided, single submitter clinical testing
Baylor Genetics RCV001004316 SCV001163197 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger); Peroxisome biogenesis disorder 1B criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001377622 SCV001575004 likely pathogenic Zellweger spectrum disorders 2022-11-07 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Arg1013 amino acid residue in PEX1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 27124789, 30561787). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PEX1 protein function. ClinVar contains an entry for this variant (Variation ID: 551650). This missense change has been observed in individuals with Zellweger spectrum disorder (PMID: 16141001, 20952722). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1013 of the PEX1 protein (p.Arg1013His).
Baylor Genetics RCV003472081 SCV004203297 likely pathogenic Heimler syndrome 1 2023-08-29 criteria provided, single submitter clinical testing

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