ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.957C>A (p.Asp319Glu)

dbSNP: rs782488487
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001520733 SCV001729910 benign Mucopolysaccharidosis, MPS-II 2023-10-06 criteria provided, single submitter clinical testing
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV001520733 SCV005089325 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), Patient’s phenotype or family history highly specific for the disease (PP4_Strong), Multiple lines of computational evidence suggest no impact on gene or gene product (BP4_Supporting)
Natera, Inc. RCV001836438 SCV002084470 likely benign Mucopolysaccharidosis, MPS-III-A 2021-10-14 no assertion criteria provided clinical testing

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