ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.322T>G (p.Tyr108Asp)

dbSNP: rs2520896190
Minimum review status: Collection method:
Minimum conflict level:
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 RCV002289443 SCV005088982 likely pathogenic Mucopolysaccharidosis, MPS-II 2024-06-07 criteria provided, single submitter literature only Absent from controls (or at low frequency) in gnomAD database (PM2_Moderate), Missense variant in a gene with a low rate of benign missense variation (PP2_Supporting), Multiple lines of computational evidence support a deleterious effect (PP3_Supporting), Patient’s phenotype or family history highly specific for the disease (PP4_Strong)
MGZ Medical Genetics Center RCV002289443 SCV002581025 likely pathogenic Mucopolysaccharidosis, MPS-II 2022-07-15 criteria provided, single submitter clinical testing

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