ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2578C>T (p.Arg860Trp) (rs61753230)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000802431 SCV000942263 pathogenic Peroxisome biogenesis disorders, Zellweger syndrome spectrum 2018-09-06 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 860 of the PEX6 protein (p.Arg860Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is not present in population databases (ExAC no frequency). This variant has been observed in heterozygosity in several individuals affected with autosomal dominant Zellweger spectrum, having arisen de novo in three of them (PMID: 19105186, 29220678). ClinVar contains an entry for this variant (Variation ID: 492968). Experimental studies have shown that this missense change results in a peroxisome biogenesis defect when overexpressed in vitro (PMID: 29220678). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000584753 SCV000692478 pathogenic Peroxisome biogenesis disorder 4B 2018-02-20 no assertion criteria provided literature only

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