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: 8
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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
Invitae RCV000340208 SCV001099769 benign Mucopolysaccharidosis type 1 2021-12-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000596643 SCV002062534 likely benign not provided 2021-11-01 criteria provided, single submitter clinical testing
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

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