ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) (rs2071421)

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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078931 SCV000110791 other not provided 2018-07-24 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000249834 SCV000304453 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000020310 SCV000439433 benign Metachromatic leukodystrophy 2018-03-06 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000078931 SCV000511542 benign not provided 2016-10-11 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000020310 SCV000883252 benign Metachromatic leukodystrophy 2018-10-15 criteria provided, single submitter curation This variant is interpreted as Benign - Stand Alone, for Metachromatic leukodystrophy, autosomal recessive. The following ACMG Tag(s) were applied: BA1 => Allele frequency is >5% in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. BP4 => Multiple lines of computational evidence suggest no impact on gene or gene product (conservation, evolutionary, splicing impact, etc.). BS3 => Well-established in vitro or in vivo functional studies show no damaging effect on protein function or splicing (https://www.ncbi.nlm.nih.gov/pubmed/11941485) (https://www.ncbi.nlm.nih.gov/pubmed/2574462).
Mendelics RCV000020310 SCV001141462 likely benign Metachromatic leukodystrophy 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000020310 SCV001733012 benign Metachromatic leukodystrophy 2020-12-05 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000020310 SCV001737289 benign Metachromatic leukodystrophy 2021-06-10 criteria provided, single submitter clinical testing
GeneDx RCV000078931 SCV001871299 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32470555, 32437521, 26577183, 31670782, 31312839, 31694723, 23581857, 30026549, 2574462, 8897113, 21648305)
OMIM RCV000003191 SCV000023349 benign ARYLSULFATASE A POLYMORPHISM 1997-12-01 no assertion criteria provided literature only
GeneReviews RCV000020310 SCV000040685 benign Metachromatic leukodystrophy 2014-02-06 no assertion criteria provided literature only Pseudodeficiency. Homozygosity for the p.Asn350Ser variant alone results in 50% or more of the mean control ARSA enzyme activity in leukocytes.
Natera, Inc. RCV000020310 SCV001456232 benign Metachromatic leukodystrophy 2019-12-10 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001357207 SCV001552597 uncertain significance Metachromatic leukodystrophy, juvenile type no assertion criteria provided clinical testing ClinVar reports this variant as a Pseudodeficiency allele from ClinVar. Homozygosity for the p.Asn350Ser variant alone results in 50% or more of the mean control ARSA enzyme activity in leukocytes. Allele frequency is common in at least one population database (frequency: 39.478% in ExAC) based on the frequency threshold of 1.151% for this gene.Variant was observed in a homozygous state in population databases more than expected for disease.This variant is interpreted as Benign - Stand Alone, for Metachromatic leukodystrophy, autosomal recessive. The following ACMG Tag(s) were applied: BA1 => Allele frequency is >5% in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. BP4 => Multiple lines of computational evidence suggest no impact on gene or gene product (conservation, evolutionary, splicing impact, etc.). BS3 => Well-established in vitro or in vivo functional studies show no damaging effect on protein function or splicing (https://www.ncbi.nlm.nih.gov/pubmed/11941485) (https://www.ncbi.nlm.nih.gov/pubmed/2574462). (ClinVar: SIB Swiss Institute of Bioinformatics)
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000249834 SCV001740695 benign not specified no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000249834 SCV001925236 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000249834 SCV001931644 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000249834 SCV001954847 benign not specified no assertion criteria provided clinical testing

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