ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.404A>G (p.Lys135Arg)

dbSNP: rs104894861
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Total submissions: 3
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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 RCV000011240 SCV005089027 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), 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_Strong)
Baylor Genetics RCV000011240 SCV003835259 likely pathogenic Mucopolysaccharidosis, MPS-II 2022-08-19 criteria provided, single submitter clinical testing
OMIM RCV000011240 SCV000031467 pathogenic Mucopolysaccharidosis, MPS-II 1992-08-01 no assertion criteria provided literature only

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