ClinVar Miner

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

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078931 SCV000110791 other not provided 2018-07-24 criteria provided, single submitter clinical testing
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.
Illumina Clinical Services Laboratory,Illumina RCV000020310 SCV000439433 likely benign Metachromatic leukodystrophy 2016-06-14 criteria provided, single submitter clinical testing
OMIM RCV000003191 SCV000023349 benign ARYLSULFATASE A POLYMORPHISM 1997-12-01 no assertion criteria provided literature only
PreventionGenetics RCV000249834 SCV000304453 benign not specified 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).

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