ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.1142del (p.Lys381fs)

dbSNP: rs2125478934
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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 RCV001939477 SCV002231862 pathogenic Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2021-05-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys381Serfs*2) in the GLB1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GLB1 are known to be pathogenic (PMID: 18524657). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with GLB1-related conditions. For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV002307812 SCV002602237 likely pathogenic GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Infantile GM1 gangliosidosis 2021-12-22 criteria provided, single submitter clinical testing NM_000404.2(GLB1):c.1142delA(K381Sfs*2) is expected to be pathogenic in the context of GLB1-related disorders. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in GLB1, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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