ClinVar Miner

Submissions for variant NM_001127649.3(PEX26):c.265G>A (p.Gly89Arg)

dbSNP: rs28940308
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000002236 SCV004201516 likely pathogenic Peroxisome biogenesis disorder 7A (Zellweger) 2023-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005222658 SCV005863435 pathogenic Peroxisome biogenesis disorder 7A (Zellweger); Peroxisome biogenesis disorder 7B 2024-02-13 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 89 of the PEX26 protein (p.Gly89Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Zellweger syndrome (PMID: 12851857). ClinVar contains an entry for this variant (Variation ID: 2153). 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 PEX26 protein function with a positive predictive value of 80%. Experimental studies have shown that this missense change affects PEX26 function (PMID: 12851857). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000002236 SCV000022394 pathogenic Peroxisome biogenesis disorder 7A (Zellweger) 2003-08-01 no assertion criteria provided literature only

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