ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.200T>A (p.Ile67Asn) (rs1064793026)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479964 SCV000564591 likely pathogenic not provided 2015-07-23 criteria provided, single submitter clinical testing The I67N variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position where amino acids with similar properties to Isoleucine are tolerated across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Missense mutations in nearby residues (S65F, L72P/Q/R) have been reported in the Human Gene Mutation Database in association with mucopolysaccharidosis VI (MPS VI) (Stenson et al., 2014), supporting the functional importance of this region of the protein.

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