ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.684A>G (p.Pro228=)

gnomAD frequency: 0.00003  dbSNP: rs782561677
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000899428 SCV001043694 benign Mucopolysaccharidosis, MPS-II 2024-01-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002363345 SCV002664776 likely benign Inborn genetic diseases 2018-02-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV000899428 SCV005089179 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), Patient’s phenotype or family history highly specific for the disease (PP4_Strong)
Natera, Inc. RCV001825812 SCV002084485 likely benign Mucopolysaccharidosis, MPS-III-A 2021-02-05 no assertion criteria provided clinical testing

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