ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.2843G>A (p.Arg948Gln)

gnomAD frequency: 0.00006  dbSNP: rs535271603
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670180 SCV000795007 uncertain significance Peroxisome biogenesis disorder 1A (Zellweger) 2017-10-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490862 SCV002793038 uncertain significance Peroxisome biogenesis disorder 1A (Zellweger); Heimler syndrome 1; Peroxisome biogenesis disorder 1B 2021-08-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002524941 SCV003439984 uncertain significance Zellweger spectrum disorders 2024-01-22 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 948 of the PEX1 protein (p.Arg948Gln). This variant is present in population databases (rs535271603, gnomAD 0.02%). This missense change has been observed in individual(s) with clinical features of peroxisome biogenesis disorders (PMID: 19105186). ClinVar contains an entry for this variant (Variation ID: 441031). 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 with a positive 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.
GenomeConnect, ClinGen RCV000509120 SCV000607101 not provided Peroxisome biogenesis disorder 1A (Zellweger); Peroxisome biogenesis disorder 1B no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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