ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.1479+1G>C

dbSNP: rs1022476871
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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 RCV001905463 SCV002129099 pathogenic Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2021-08-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site results in skipping of exon 14, but is expected to preserve the integrity of the reading-frame (PMID: 16941474). Disruption of this splice site has been observed in individual(s) with GM1-gangliosidosis (PMID: 16941474). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 14 of the GLB1 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product.

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