ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.116_123del (p.Ala39fs) (rs1554032243)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000585981 SCV000694143 pathogenic Mucopolysaccharidosis type VI 2016-05-19 criteria provided, single submitter clinical testing Variant summary: The ARSB c.116_123delCCGGGGCC (p.Ala39Glufs) variant results in a premature termination codon, predicted to cause a truncated or absent ARSB protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic in ClinVar (e.g.c.238delG/p.Val80Cysfs). One in silico tool predicts a damaging outcome for this variant. This variant has been reported in at least one MPS6 patient without detectable ARSB protein or activity. The variant is absent in 38156 control chromosomes. Taken together, this variant is classified as pathogenic.
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova RCV000585981 SCV000802962 pathogenic Mucopolysaccharidosis type VI 2018-01-01 criteria provided, single submitter curation Frameshift variant (PVS1); In vitro functional studies supportive of a damaging effect on the gene product (low to no ARSB activity in homozygotes; PS3); Absent from GnomAD (PM2)

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