ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.1493T>C (p.Leu498Pro)

dbSNP: rs774358117
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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 RCV000677492 SCV000803002 likely pathogenic Mucopolysaccharidosis type 6 2018-01-01 criteria provided, single submitter curation In vitro functional studies supportive of a damaging effect on the gene product (low to no ARSB activity in homozygotes; PS3); Very low frequency in ExAC (PM2)
Baylor Genetics RCV000677492 SCV004209870 likely pathogenic Mucopolysaccharidosis type 6 2023-04-13 criteria provided, single submitter clinical testing

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