ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) (rs11934801)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078375 SCV000110221 benign not specified 2015-03-09 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000078375 SCV000257642 uncertain significance not specified 2015-06-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000327434 SCV000451786 likely benign Mucopolysaccharidosis type 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000418377 SCV000510695 benign not provided 2016-09-08 criteria provided, single submitter clinical testing
Invitae RCV000327434 SCV000752535 benign Mucopolysaccharidosis type 1 2020-12-08 criteria provided, single submitter clinical testing
Mendelics RCV000722002 SCV001136677 likely benign Hurler syndrome 2019-05-28 criteria provided, single submitter clinical testing
SingHealth Duke-NUS Institute of Precision Medicine RCV000722002 SCV000853166 uncertain significance Hurler syndrome 2017-06-07 no assertion criteria provided curation
Broad Institute Rare Disease Group, Broad Institute RCV000327434 SCV001422670 benign Mucopolysaccharidosis type 1 2020-01-13 no assertion criteria provided curation The p.Gly409Arg variant has not been previously reported in individuals with mucopolysaccharidosis (MPS) but has been identified in 5.567% (555/9810) of African chromosomes, including 16 homozygotes, and 3 additional homozygotes in other populations, by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs11934801). This variant has been seen in the general population at a frequency high enough to rule out a pathogenic role. This variant has also been reported in ClinVar as benign by Invitae, EGL Genetic Diagnostics, and Children's Mercy Hospital and Clinics, likely benign by Illumina, and a VUS by the Children's Hospital of Philadelphia and the NUS Institute of Precision Medicine (Variation ID: 92627). It has also been reported in the heterozygous state and described as a pseudodeficiency allele in an unaffected individual from newborn screening, suggesting that this variant is not pathogenic for disease (PMID: 31133280). In summary, this variant meets criteria to be classified as benign for mucopolysaccharidosis in an autosomal recessive manner based on the high frequency of the variant in the general population. ACMG/AMP Criteria applied: BA1, BS2 (Richards 2015).

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