ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.3623G>A (p.Arg1208Gln)

gnomAD frequency: 0.00005  dbSNP: rs767337582
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001832383 SCV001201143 uncertain significance Zellweger spectrum disorders 2024-03-14 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1208 of the PEX1 protein (p.Arg1208Gln). This variant is present in population databases (rs767337582, gnomAD 0.01%). 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: 836553). 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 not expected to disrupt PEX1 protein function with a negative predictive value of 80%. 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. RCV001832383 SCV002076803 uncertain significance Zellweger spectrum disorders 2018-06-09 no assertion criteria provided clinical testing
GenomeConnect - Invitae Patient Insights Network RCV001832383 SCV004228669 not provided Zellweger spectrum disorders no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 12-16-2019 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.
PreventionGenetics, part of Exact Sciences RCV004753165 SCV005361067 uncertain significance PEX1-related disorder 2024-03-05 no assertion criteria provided clinical testing The PEX1 c.3623G>A variant is predicted to result in the amino acid substitution p.Arg1208Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.011% 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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