ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1801C>T (p.Arg601Trp) (rs61753225)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000779505 SCV000916142 likely pathogenic Peroxisome biogenesis disorder 4a (zellweger) 2017-04-28 criteria provided, single submitter clinical testing The PEX6 c.1801C>T (p.Arg601Trp) missense variant has been reported in three studies and was found in a total of four individuals with Zellweger syndrome, including one who was homozygous for the variant, two who were compound heterozyous, and one who carried the variant in a heterozygous state with another missense variant with unspecified zygosity (Ebberink et al. 2010; Berendse et al. 2016; Lüsebrink et al. 2016). Frequency information for the p.Arg601Trp variant is not available from the 1000 Genomes Project, the Exome Sequencing Project or the Exome Aggregation Consortium, and it was reported to be absent from 200 control chromosomes (Ebberink et al. 2010). Based on the evidence, the p.Arg601Trp variant is classified as likely pathogenic for Zellweger syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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