ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.571T>G (p.Tyr191Asp)

dbSNP: rs2143001744
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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 RCV001578516 SCV001547747 uncertain significance Mucopolysaccharidosis, MPS-IV-A 2021-02-01 criteria provided, single submitter curation In vivo functional studies supportive of a damaging effect on the gene product (low to null enzymatic activity in homozygotes; PS3_supporting); absent from gnomAD v2.1.1 (PM2_moderate); multiple lines of computational evidence support a deleterious effect on the gene (PP3_supporting)
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001578516 SCV002507181 likely pathogenic Mucopolysaccharidosis, MPS-IV-A 2022-05-09 criteria provided, single submitter clinical testing

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