ClinVar Miner

Submissions for variant NC_000003.12:g.33097285A>C

dbSNP: rs17522946
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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 RCV003051459 SCV003449404 uncertain significance Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2022-04-13 criteria provided, single submitter clinical testing This variant occurs in a non-coding region of the GLB1 gene. It does not change the encoded amino acid sequence of the GLB1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with lysosomal disorders (PMID: 33673364). 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 available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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