ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.1174_1175del (p.Leu392fs)

dbSNP: rs398123348
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174243 SCV000225512 pathogenic not provided 2013-02-18 criteria provided, single submitter clinical testing
Counsyl RCV000672348 SCV000797446 likely pathogenic GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2018-01-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001386115 SCV001586231 pathogenic Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2024-10-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu392Valfs*64) 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 present in population databases (rs398123348, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with GLB1-related conditions. ClinVar contains an entry for this variant (Variation ID: 92893). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000672348 SCV005658093 pathogenic GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2024-06-04 criteria provided, single submitter clinical testing

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