ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.253TAC[1] (p.Tyr86del)

dbSNP: rs969231209
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001784850 SCV002018852 pathogenic Mucopolysaccharidosis type 6 2021-10-29 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001784850 SCV003934348 likely pathogenic Mucopolysaccharidosis type 6 2023-05-26 criteria provided, single submitter clinical testing Variant summary: ARSB c.256_258delTAC (p.Tyr86del) results in an in-frame deletion that is predicted to remove 1 amino acid from the encoded protein. The variant was absent in 173184 control chromosomes (gnomAD). c.256_258delTAC has been reported in the literature in an individual affected with Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome) who was compound heterozygous with a (likely) pathogenic variant (Karageorgos_2004). This publication also reports experimental evidence evaluating an impact on protein function, showing that the variant construct results in very low ARSB activity when transfected into cells. The following publication has been ascertained in the context of this evaluation (PMID: 14974081). One clinical diagnostic laboratory has submitted a clinical-significance assessment for this variant to ClinVar after 2014 without evidence for independent evaluation, and classified it as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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