ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2585G>T (p.Gly862Val)

gnomAD frequency: 0.00001  dbSNP: rs764227040
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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 RCV001318814 SCV001509529 pathogenic Peroxisome biogenesis disorder 2023-10-06 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 862 of the PEX6 protein (p.Gly862Val). This variant is present in population databases (rs764227040, gnomAD 0.002%). This missense change has been observed in individual(s) with inherited retinal dystrophy (PMID: 34662339). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 1019386). 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 PEX6 protein function. For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV001830322 SCV002077274 uncertain significance Zellweger spectrum disorders 2021-02-16 no assertion criteria provided clinical testing

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