ClinVar Miner

Submissions for variant NC_000003.11:g.(?_33106935)_(33107069_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004580949 SCV005066251 pathogenic Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2023-02-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. A similar copy number variant has been observed in individual(s) with GM1 gangliosidosis (PMID: 17309651). This variant is a gross deletion of the genomic region encompassing exon(s) 5 of the GLB1 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in GLB1 are known to be pathogenic (PMID: 18524657).

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