ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.568C>T (p.Pro190Ser)

gnomAD frequency: 0.00001  dbSNP: rs1410451415
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001996953 SCV002219145 uncertain significance Peroxisome biogenesis disorder 2B 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 190 of the PEX5 protein (p.Pro190Ser). 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. 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 PEX5 protein function. ClinVar contains an entry for this variant (Variation ID: 1447866). This variant has not been reported in the literature in individuals affected with PEX5-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%).

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