ClinVar Miner

Submissions for variant NM_153818.1(PEX10):c.1A>G (p.Met1Val) (rs886041314)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000341916 SCV000329696 pathogenic not provided 2018-02-15 criteria provided, single submitter clinical testing The c.1A>G pathogenic variant in the PEX10 gene has been reported previously in mild Zellweger spectrum disorder, in an affected individual who was heterozygous for the c.1A>G variant and another variant (Berendse et al., 2014). As this pathogenic variant changes the translation initiator Methionine codon, the resultant protein is described as p.Met1?, using a question mark to signify that it is not known if the loss of Met1 means that all protein translation is completely prevented or if an abnormal protein is produced using an alternate Methionine. The c.1A>G variant was not observed in approximately 2,300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Other p.Met1? variants (c.2T>C; c.3G>A) have been reported in the Human Gene Mutation Database in association with Zellweger syndrome and ataxia (Stenson et al., 2014), supporting the functional importance of this region of the protein. We interpret c.1A>G as a pathogenic variant.
Counsyl RCV000666568 SCV000790878 likely pathogenic Peroxisome biogenesis disorder 6A; Peroxisome biogenesis disorder 6B 2017-04-12 criteria provided, single submitter clinical testing

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