ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.1479+1G>A (rs1022476871)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673840 SCV000799088 likely pathogenic GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2018-04-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000731323 SCV000859125 pathogenic not provided 2018-01-15 criteria provided, single submitter clinical testing
Invitae RCV001389790 SCV001591268 pathogenic Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2020-09-02 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 14 of the GLB1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). Disruption of this splice site has been observed in individual(s) with GM1 gangliosidosis (PMID: 16941474). ClinVar contains an entry for this variant (Variation ID: 557669). Experimental studies have shown that disruption of this splice site alters mRNA splicing (PMID: 16941474). 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). For these reasons, this variant has been classified as Pathogenic.

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