ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs267608253
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000792527 SCV000931830 pathogenic Peroxisome biogenesis disorder 9B 2023-03-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 639671). This variant is also known as IVS1+1G>A. Disruption of this splice site has been observed in individuals with rhizomelic chondrodysplasia punctata (PMID: 12325024). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change affects a donor splice site in intron 1 of the PEX7 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in PEX7 are known to be pathogenic (PMID: 12325024, 12522768, 20301447).
Baylor Genetics RCV001004175 SCV001162992 pathogenic Rhizomelic chondrodysplasia punctata type 1 criteria provided, single submitter clinical testing
Baylor Genetics RCV000792527 SCV004203907 pathogenic Peroxisome biogenesis disorder 9B 2023-06-30 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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