ClinVar Miner

Submissions for variant NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp) (rs774393243)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000735425 SCV001366262 uncertain significance Mucopolysaccharidosis type 7 2020-03-25 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence favors the pathogenic nature of this variant, however the currently available data is insufficient to conclusively support its pathogenic nature. Thus this variant is classified as Uncertain significance - favor pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PP3,PM3_SUPP.
Baylor Genetics RCV000735425 SCV001522959 pathogenic Mucopolysaccharidosis type 7 2020-01-23 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Pathology and Clinical Laboratory Medicine,King Fahad Medical City RCV000735425 SCV000854592 pathogenic Mucopolysaccharidosis type 7 2018-12-03 no assertion criteria provided clinical testing
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000735425 SCV001469236 pathogenic Mucopolysaccharidosis type 7 2020-09-10 no assertion criteria provided clinical testing

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