ClinVar Miner

Submissions for variant NM_153818.1(PEX10):c.373C>T (p.Arg125Ter) (rs61750434)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670577 SCV000795446 likely pathogenic Peroxisome biogenesis disorder 6A; Peroxisome biogenesis disorder 6B 2017-11-15 criteria provided, single submitter clinical testing
Invitae RCV001058978 SCV001223581 pathogenic Peroxisome biogenesis disorder, complementation group 7 2019-02-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg125*) in the PEX10 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with neonatal adrenoleukodystrophy (PMID: 9683594). ClinVar contains an entry for this variant (Variation ID: 6772). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in PEX10 are known to be pathogenic (PMID: 9683594, 10862081, 21031596). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000007174 SCV000027370 pathogenic Peroxisome biogenesis disorder 6B 1998-08-01 no assertion criteria provided literature only

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