ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.3398C>T (p.Ser1133Phe)

gnomAD frequency: 0.00008  dbSNP: rs185115432
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597655 SCV000709031 uncertain significance not provided 2017-05-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001319376 SCV001510118 uncertain significance Zellweger spectrum disorders 2025-01-06 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 1133 of the PEX1 protein (p.Ser1133Phe). This variant is present in population databases (rs185115432, 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: 502339). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt PEX1 protein function with a positive predictive value of 95%. 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. RCV001319376 SCV002076812 uncertain significance Zellweger spectrum disorders 2018-08-31 no assertion criteria provided clinical testing

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