ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.900T>A (p.Asp300Glu)

gnomAD frequency: 0.00001  dbSNP: rs1280123243
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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 RCV000677602 SCV000803119 uncertain significance Mucopolysaccharidosis type 6 2018-01-01 criteria provided, single submitter curation Located in a well-established functional domain (PM1); Very low frequency in ExAC (PM2); Multiple lines of computational evidence support a deleterious effect on the gene product (PP3)
Baylor Genetics RCV000677602 SCV004209314 likely pathogenic Mucopolysaccharidosis type 6 2023-06-28 criteria provided, single submitter clinical testing

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