ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.130+1G>A (rs267608253)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000792527 SCV000931830 pathogenic Peroxisome biogenesis disorder 9B 2019-09-28 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 1 of the PEX7 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has been observed to be homozygous or in combination with another PEX7 variant in individuals affected with rhizomelic chondrodysplasia punctata (PMID: 12325024). This variant is also known as IVS1+1G>A in the literature. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in PEX7 are known to be pathogenic (PMID: 12325024, 20301447). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001004175 SCV001162992 pathogenic Rhizomelic chondrodysplasia punctata type 1 criteria provided, single submitter clinical testing
Natera, Inc. RCV001004175 SCV001459665 pathogenic Rhizomelic chondrodysplasia punctata type 1 2020-09-16 no assertion criteria provided clinical testing

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