ClinVar Miner

Submissions for variant NM_000181.4(GUSB):c.646C>T (p.Arg216Trp)

gnomAD frequency: 0.00001  dbSNP: rs121918174
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000000943 SCV002600734 pathogenic Mucopolysaccharidosis type 7 2022-10-27 criteria provided, single submitter clinical testing Variant summary: GUSB c.646C>T (p.Arg216Trp) results in a non-conservative amino acid change located in the Overlapping homologous superfamilies domain(IPR006104) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 2e-05 in 251436 control chromosomes (gnomAD). c.646C>T has been reported in the literature in individuals affected with Mucopolysaccharidosis Type VII (Sly Syndrome)(examples: Vervoort_1997, Vervoort_1996, Vervoort_1993). These data indicate that the variant is likely to be associated with disease. At least one publication reports experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in <10% of normal activity (examples:Vervoort_1996). No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000000943 SCV002809369 likely pathogenic Mucopolysaccharidosis type 7 2022-01-11 criteria provided, single submitter clinical testing
OMIM RCV000000943 SCV000021093 pathogenic Mucopolysaccharidosis type 7 1993-01-01 no assertion criteria provided literature only

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