ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.944G>A (p.Arg315Gln) (rs727503809)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152796 SCV000202186 pathogenic not provided 2014-02-14 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000664046 SCV000787460 likely pathogenic Mucopolysaccharidosis type 6 2018-04-16 criteria provided, single submitter curation This variant is interpreted as a Likely Pathogenic, for Mucopolysaccharidosis type VI, Autosomal Recessive inheritance. The following ACMG Tag(s) were applied: PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PM3 => For recessive disorders, detected in trans with a pathogenic variant (PMID:16435196). PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PS4-Moderate => PS4 downgraded in strength to Moderate (PMID:16435196) (PMID:19259130) (PMID:14974081).
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova RCV000664046 SCV000803129 likely pathogenic Mucopolysaccharidosis type 6 2018-01-01 criteria provided, single submitter curation In vitro functional studies supportive of a damaging effect on the gene product (low to no ARSB activity in homozygotes; PS3); Very low frequency in ExAC (PM2); Reputable source identifies as pathogenic (PP5)

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