Submissions for variant NM_000046.5(ARSB):c.194C>T (p.Ser65Phe)

dbSNP: rs1233331806

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova	RCV000677510	SCV000803020	uncertain significance	Mucopolysaccharidosis type 6	2018-01-01	criteria provided, single submitter	curation	Absent from GnomAD (PM2);
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000677510	SCV005885701	pathogenic	Mucopolysaccharidosis type 6	2025-02-10	criteria provided, single submitter	clinical testing	Variant summary: ARSB c.194C>T (p.Ser65Phe) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 182476 control chromosomes (gnomAD). c.194C>T has been reported in the literature in multiple individuals affected with Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome; e.g. Villani_1999, Voskoboeva_2022). These data indicate that the variant is very likely to be associated with disease. The following publications have been ascertained in the context of this evaluation (PMID: 10036316, 35118118). ClinVar contains an entry for this variant (Variation ID: 559735). Based on the evidence outlined above, the variant was classified as pathogenic.