ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.1468_1470del (p.Asn490del)

dbSNP: rs1215113920
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001036666 SCV001200042 likely pathogenic Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2024-02-13 criteria provided, single submitter clinical testing This variant, c.1468_1470del, results in the deletion of 1 amino acid(s) of the GLB1 protein (p.Asn490del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has been observed in individual(s) with clinical features of GLB1-related conditions (PMID: 26646981, 30187681; Invitae). ClinVar contains an entry for this variant (Variation ID: 835718). 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.
GeneDx RCV003329368 SCV004036719 likely pathogenic not provided 2023-03-23 criteria provided, single submitter clinical testing In-frame deletion of 1 amino acid in a non-repeat region; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30187681, 26646981)

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