ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.846del (p.Thr283fs) (rs1553610382)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673140 SCV000798310 pathogenic GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2018-03-07 criteria provided, single submitter clinical testing
Mendelics RCV000987140 SCV001136361 pathogenic GM1 gangliosidosis type 2 2019-05-28 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV001175077 SCV001338637 pathogenic GM1 gangliosidosis 2020-04-08 criteria provided, single submitter clinical testing Variant summary: GLB1 c.846delC (p.Thr283GlnfsX21) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 249510 control chromosomes (gnomAD). c.846delC has been reported in the literature in individuals affected with GM1 gangliosidosis (e.g. Coutinho_2012, Santamaria_2007). These data indicate that the variant is likely to be associated with disease. Two ClinVar submitters (evaluation after 2014) cite the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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