ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.1174_1175del (p.Leu392fs) (rs398123348)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 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
Invitae RCV001386115 SCV001586231 pathogenic Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2020-10-20 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. 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. ClinVar contains an entry for this variant (Variation ID: 92893). Loss-of-function variants in GLB1 are known to be pathogenic (PMID: 18524657). For these reasons, this variant has been classified as Pathogenic.

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