ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.1567T>C (p.Ter523Gln)

dbSNP: rs1348149236
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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 RCV001578465 SCV001547999 uncertain significance Mucopolysaccharidosis, MPS-IV-A 2021-02-01 criteria provided, single submitter research Absent from gnomAD v2.1.1 (PM2_moderate); protein length changes as a result of loss variant in a nonrepeat region (PM4_moderate)

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