ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.3304T>C (p.Cys1102Arg)

gnomAD frequency: 0.00001  dbSNP: rs752475812
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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 RCV001240075 SCV001412996 uncertain significance Zellweger spectrum disorders 2022-02-03 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 1102 of the PEX1 protein (p.Cys1102Arg). This variant is present in population databases (rs752475812, gnomAD 0.02%). 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: 965586). 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. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV003481014 SCV004224037 uncertain significance not provided 2022-12-08 criteria provided, single submitter clinical testing PM2
Ambry Genetics RCV005385006 SCV006043258 uncertain significance Inborn genetic diseases 2025-01-18 criteria provided, single submitter clinical testing The c.3304T>C (p.C1102R) alteration is located in exon 21 (coding exon 21) of the PEX1 gene. This alteration results from a T to C substitution at nucleotide position 3304, causing the cysteine (C) at amino acid position 1102 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001240075 SCV002076815 uncertain significance Zellweger spectrum disorders 2018-07-28 no assertion criteria provided clinical testing

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