ClinVar Miner

Submissions for variant NM_001386393.1(PANK2):c.299-1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003502041 SCV004298012 likely pathogenic Pigmentary pallidal degeneration 2023-09-24 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 1 of the PANK2 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 PANK2 are known to be pathogenic (PMID: 11479594, 12510040). 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 PANK2-related disease (PMID: 12510040). This variant is also known as IVS1-1G>A. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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