ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.479G>A (p.Arg160Gln) (rs1196325597)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Molecular Genetics Department, National Research Center RCV000656130 SCV000609484 pathogenic Mucopolysaccharidosis type 6 2015-12-01 criteria provided, single submitter research
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova RCV000656130 SCV000803084 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 GnomAD (PM2)
Invitae RCV000656130 SCV001586727 pathogenic Mucopolysaccharidosis type 6 2020-01-30 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 160 of the ARSB protein (p.Arg160Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with mucopolysaccharidosis type VI (PMID: 8125475, 24677745, 17643332, 27797586, 22133300). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 445292). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). For these reasons, this variant has been classified as Pathogenic.

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