ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.8C>T (p.Pro3Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004764378 SCV005373687 likely pathogenic Mucopolysaccharidosis type 6 2023-05-20 criteria provided, single submitter clinical testing The missense variant c.8C>T (p.Pro3Leu) in the ARSB gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in the gnomAD Exomes. The amino acid Proline at position 3 is changed to a Leucine changing protein sequence and it might alter its composition and physico-chemical properties. Multiple lines of computational evidence (Polyphen - Benign, SIFT - Tolerated and MutationTaster - Polymorphism) predict no damaging effect on protein structure and function for this variant. For these reasons, this variant has been classified as Uncertain Significance

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