ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.276G>A (p.Trp92Ter) (rs748830051)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670448 SCV000795300 pathogenic GM1 gangliosidosis type 2; Gangliosidosis GM1 type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2017-11-02 criteria provided, single submitter clinical testing
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics RCV000766231 SCV000891160 pathogenic Infantile GM1 gangliosidosis 2016-02-22 criteria provided, single submitter clinical testing The observed variant p.W92X in exon 3 of the GLB1 gene is a nonsense variant. The variant is present in gnomAD and ExAc database with an allele frequency of 0.00163 and 0.00000828 respectively. The variant is in trans with a frameshift variant in the same gene of this patient. In summary, this variant meets the ACMG criteria to be classified as pathogenic based upon the evidence stated above.

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