ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.960C>G (p.Ser320Arg) (rs762614315)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493516 SCV000582894 likely pathogenic not provided 2016-06-15 criteria provided, single submitter clinical testing The S320R variant has previously been reported in association with mucopolysaccharidosis VI (MPSVI) in an individual who was homozygous for S320R and another individual who was compound heterozygous for S320R and a frameshift variant in ARSB (Litjens et al., 2001; Uttarilli et al., 2015). The S320R variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants in nearby residues (R315Q, L321P, G324V) have been reported in the Human Gene Mutation Database in association with MPSVI (Stenson et al., 2014), supporting the functional importance of this region of the protein.] Therefore, we interpret S320R to be a likely pathogenic variant.
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova RCV000677613 SCV000803131 uncertain significance Mucopolysaccharidosis type 6 2018-01-01 criteria provided, single submitter curation Absent from GnomAD (PM2); Multiple lines of computational evidence support a deleterious effect on the gene product (PP3)

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