ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.1239+1G>T (rs756876301)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000633316 SCV000754535 pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2017-09-28 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 5 of the PEX1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs756876301, ExAC 0.001%). This variant has been reported in combination with another PEX1 variant in two individuals affected with peroxisomal biogenesis disorder (PMID: 19105186, 26387595). ClinVar contains an entry for this variant (Variation ID: 217430). 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 PEX1 are known to be pathogenic (PMID: 9398847, 16086329, 16141001, 21031596). For these reasons, this variant has been classified as Pathogenic.
Molecular Diagnostics Laboratory,M Health: University of Minnesota RCV000633316 SCV000890871 pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2017-11-27 criteria provided, single submitter clinical testing
OMIM RCV000201308 SCV000256091 pathogenic Deafness enamel hypoplasia nail defects 2015-10-01 no assertion criteria provided literature only

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