ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.413A>G (p.His138Arg)

dbSNP: rs2520895106
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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 RCV003314493 SCV005089037 pathogenic Mucopolysaccharidosis, MPS-II 2024-06-07 criteria provided, single submitter literature only In vitro or in vivo functional studies supportive of a damaging effect (PS3_Strong), Located in a mutational hot spot and/or critical functional domain (PM1_Moderate), 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_Moderate)
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV003314493 SCV004013913 pathogenic Mucopolysaccharidosis, MPS-II 2023-05-24 criteria provided, single submitter clinical testing PS4, PM1, PM2, PM5, PP3, PP4

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