ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1345C>A (p.His449Asn)

gnomAD frequency: 0.00315  dbSNP: rs532731688
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000340208 SCV000451789 uncertain significance Mucopolysaccharidosis type 1 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Eurofins Ntd Llc (ga) RCV000596643 SCV000700435 uncertain significance not provided 2017-03-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000999899 SCV000884023 likely benign not specified 2019-06-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000340208 SCV001099769 benign Mucopolysaccharidosis type 1 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000596643 SCV002062534 likely benign not provided 2024-10-01 criteria provided, single submitter clinical testing IDUA: BS2
Ambry Genetics RCV004021975 SCV004885444 likely benign Inborn genetic diseases 2022-10-13 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000596643 SCV001739601 uncertain significance not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000596643 SCV001798361 uncertain significance not provided no assertion criteria provided clinical testing
Natera, Inc. RCV000340208 SCV002075357 benign Mucopolysaccharidosis type 1 2017-08-10 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003912489 SCV004733560 likely benign IDUA-related disorder 2022-07-18 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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