ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.574T>C (p.Cys192Arg) (rs1554087423)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova RCV000677578 SCV000803094 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); Absent from GnomAD (PM2)
Invitae RCV000677578 SCV001235859 pathogenic Mucopolysaccharidosis type 6 2019-12-05 criteria provided, single submitter clinical testing This sequence change replaces cysteine with arginine at codon 192 of the ARSB protein (p.Cys192Arg). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with mucopolysaccharidosis VI (PMID: 17458871, 8116615, 24107440). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 559798). This variant has been reported to affect ARSB protein function (PMID: 8116615). For these reasons, this variant has been classified as Pathogenic.

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