ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.1072G>A (p.Val358Met)

gnomAD frequency: 0.34419  dbSNP: rs1065757
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000077997 SCV000109835 benign not specified 2014-12-19 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000077997 SCV000301614 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000352809 SCV000458384 benign Mucopolysaccharidosis type 6 2018-01-13 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova RCV000352809 SCV000802948 benign Mucopolysaccharidosis type 6 2018-01-01 criteria provided, single submitter curation Allele frequency > 5% in ExAC (BA1); Classified benign by a reputable source (BP6)
Invitae RCV000352809 SCV001729376 benign Mucopolysaccharidosis type 6 2021-12-09 criteria provided, single submitter clinical testing
Pars Genome Lab RCV000352809 SCV001745258 benign Mucopolysaccharidosis type 6 2021-06-19 criteria provided, single submitter clinical testing
GeneDx RCV000675205 SCV001865070 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30335002, 27826022, 18406185)
Mayo Clinic Laboratories,Mayo Clinic RCV000675205 SCV000800847 uncertain significance not provided 2015-10-22 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000077997 SCV001744461 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000077997 SCV001968000 benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV000352809 SCV002084971 benign Mucopolysaccharidosis type 6 2019-11-19 no assertion criteria provided clinical testing

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