ClinVar Miner

Submissions for variant NM_000533.5(PLP1):c.697-1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003066358 SCV003445382 pathogenic Hereditary spastic paraplegia 2 2022-09-14 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 5 of the PLP1 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 PLP1 are known to be pathogenic (PMID: 18470932). Disruption of this splice site has been observed in individual(s) with Pelizaeus-Merzbacher disease (PMID: 10417279, 29451896). In at least one individual the variant was observed to be de novo. This variant is also known as intron 5 asp G-A. 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.

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