ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.435TCT[1] (p.Leu147del)

dbSNP: rs751033858
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002005188 SCV002261771 likely pathogenic Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2023-10-14 criteria provided, single submitter clinical testing This variant, c.438_440del, results in the deletion of 1 amino acid(s) of the GLB1 protein (p.Leu147del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs751033858, gnomAD 0.005%). This variant has been observed in individual(s) with GM1 gangliosidosis and/or mucopolysaccharidosis type IVB (PMID: 17309651, 29800929). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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