ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.208_215del (p.Pro70fs) (rs1554032155)

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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 RCV000677513 SCV000803023 pathogenic Mucopolysaccharidosis type VI 2018-01-01 criteria provided, single submitter curation Frameshift variant (PVS1); In vitro functional studies supportive of a damaging effect on the gene product (low to no ARSB activity in homozygotes; PS3); Absent from GnomAD (PM2)

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