ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.2174C>T (p.Ala725Val)

gnomAD frequency: 0.00001  dbSNP: rs1268325040
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001989155 SCV002285032 uncertain significance Zellweger spectrum disorders 2021-09-21 criteria provided, single submitter clinical testing 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 PEX1 protein function. This variant has not been reported in the literature in individuals affected with PEX1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 725 of the PEX1 protein (p.Ala725Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine.

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