ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.667G>A (p.Asp223Asn)

gnomAD frequency: 0.00166  dbSNP: rs183347428
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000675603 SCV000577361 benign not provided 2018-09-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27939258, 27238910)
Invitae RCV000708550 SCV000837661 other Mucopolysaccharidosis type 1 2018-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002527033 SCV003632591 likely benign Inborn genetic diseases 2021-11-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000675603 SCV000801300 uncertain significance not provided 2017-05-16 no assertion criteria provided clinical testing
Natera, Inc. RCV000708550 SCV001457277 benign Mucopolysaccharidosis type 1 2020-04-23 no assertion criteria provided clinical testing
GeneReviews RCV000708550 SCV002016348 not provided Mucopolysaccharidosis type 1 no assertion provided literature only Pseudodeficiency variants

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