ClinVar Miner

Submissions for variant NM_001127649.3(PEX26):c.134T>C (p.Leu45Pro) (rs61752132)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000351940 SCV000437325 uncertain significance Peroxisome biogenesis disorder 7A 2017-04-28 criteria provided, single submitter clinical testing The PEX26 c.134T>C (p.Leu45Pro) missense variant was reported in a compound heterozygous state with a second missense variant in one individual with infantile Refsum disease, which is part of the Zellweger spectrum (Matsumoto et al. 2003). Control data are not available and allele frequency information for this variant is not reported in the 1000 Genomes Project, the Exome Sequencing Project, or the Exome Aggregation Consortium. Expression of the p.Leu45Pro variant in a PEX26-deficient CHO cell line showed that the variant did not restore impaired peroxisome biogenesis (Matsumoto et al. 2003, Weller et al. 2005) and interfered with interactions with other PEX proteins (Furuki et al. 2006; Tamura et al. 2014). Based on the evidence, the p.Leu45Pro variant is classified as a variant of unknown significance but suspicious for pathogenicity for Zellweger syndrome spectrum. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
OMIM RCV000002240 SCV000022398 pathogenic Peroxisome biogenesis disorder 7B 2003-08-01 no assertion criteria provided literature only

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