ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.553-1G>C

dbSNP: rs1575459735
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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 RCV000791815 SCV000931079 pathogenic Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2018-11-11 criteria provided, single submitter clinical testing 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. For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in GLB1 are known to be pathogenic (PMID: 18524657). Disruption of this splice site has been observed to segregate with GM1-gangliosidosis in a family (PMID: 27679996). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 5 of the GLB1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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