ClinVar Miner

Submissions for variant NM_006390.4(IPO8):c.2900-1G>A

dbSNP: rs1243135564
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre of Medical Genetics, University of Antwerp RCV001507278 SCV001547257 pathogenic IPO8-related aortopathy 2021-03-18 criteria provided, single submitter research PVS1, PM2, PM3
GeneDx RCV002225829 SCV002504008 likely pathogenic not provided 2022-03-18 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 34010605, 34010604)
Labcorp Genetics (formerly Invitae), Labcorp RCV002225829 SCV003505121 pathogenic not provided 2022-06-29 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 23 of the IPO8 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 IPO8 are known to be pathogenic (PMID: 33875846). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with clinical features of IPO8-related condition(s) (PMID: 34010604, 34010605). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 1047915). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Biochemistry and Genetics Laboratory, University Hospital of Angers RCV001731197 SCV001571684 pathogenic IPO8 related Connective tissue disorder 2021-04-22 no assertion criteria provided research
OMIM RCV001553796 SCV001774793 pathogenic VISS syndrome 2021-08-12 no assertion criteria provided literature only

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