ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.1369C>T (p.Arg457Cys)

gnomAD frequency: 0.00002  dbSNP: rs199544306
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001860557 SCV002286627 uncertain significance Peroxisome biogenesis disorder 2B 2023-10-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 457 of the PEX5 protein (p.Arg457Cys). This variant is present in population databases (rs199544306, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with PEX5-related conditions. ClinVar contains an entry for this variant (Variation ID: 813575). 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 PEX5 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.
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center RCV001252758 SCV001163901 uncertain significance Microcephaly no assertion criteria provided research

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