ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.2833A>G (p.Ile945Val)

gnomAD frequency: 0.00001  dbSNP: rs753349772
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001241572 SCV001414599 uncertain significance Zellweger spectrum disorders 2023-11-20 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 945 of the PEX1 protein (p.Ile945Val). This variant is present in population databases (rs753349772, gnomAD 0.002%). 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: 966806). 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.
Natera, Inc. RCV001241572 SCV002076842 uncertain significance Zellweger spectrum disorders 2018-12-12 no assertion criteria provided clinical testing

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