ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.238del (p.Val80fs)

dbSNP: rs431905493
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Total submissions: 2
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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 RCV000677521 SCV000803031 pathogenic Mucopolysaccharidosis type 6 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); Reputable source identifies as pathogenic (PP5)
OMIM RCV000000929 SCV000021079 pathogenic Mucopolysaccharidosis, type vi, severe 1992-01-01 no assertion criteria provided literature only

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