ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: 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
Eurofins Ntd Llc (ga) RCV000731323 SCV000859125 pathogenic not provided 2018-01-15 criteria provided, single submitter clinical testing
Invitae RCV001389790 SCV001591268 pathogenic Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2023-05-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 557669). Disruption of this splice site has been observed in individual(s) with GM1 gangliosidosis (PMID: 16941474). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 14 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).

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