ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.1563A>T (p.Glu521Asp) (rs1602725543)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova RCV000790552 SCV000929889 likely pathogenic Mucopolysaccharidosis, MPS-II 2019-01-01 criteria provided, single submitter literature only PS3: Absent enzymatic activity in hemyzygote. PM2: Absent from GnomAD. PP3:multiple lines of computational evidence supporting a deleterious effect (DANN, MutationTaster, GERP, SIFT)

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