ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.1454T>A (p.Ile485Lys)

dbSNP: rs782430567
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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 RCV001568383 SCV005089591 likely pathogenic Mucopolysaccharidosis, MPS-II 2024-06-07 criteria provided, single submitter literature only Prevalence of the variant significantly increased in affected individuals compared with controls (PS4_Supporting), Absent from controls (or at low frequency) in gnomAD database (PM2_Moderate), Missense change at the same amino acid residue as a pathogenic variant (PM5_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)
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences RCV001568383 SCV001480522 likely pathogenic Mucopolysaccharidosis, MPS-II criteria provided, single submitter clinical testing

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