ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.915-1G>T

dbSNP: rs749020375
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001985845 SCV002263721 likely pathogenic Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2021-08-01 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 8 of the GLB1 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 GLB1 are known to be pathogenic (PMID: 18524657). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with GLB1-related conditions. This variant is present in population databases (rs749020375, ExAC 0.002%).

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