Submissions for variant NM_000046.5(ARSB):c.157G>A (p.Asp53Asn)

dbSNP: rs1554032217

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova	RCV000677500	SCV000803010	likely pathogenic	Mucopolysaccharidosis type 6	2018-01-01	criteria provided, single submitter	curation	In vitro functional studies supportive of a damaging effect on the gene product (low to no ARSB activity in homozygotes; PS3);Located in a well-established functional domain (PM1); Absent from GnomAD (PM2); Multiple lines of computational evidence support a deleterious effect on the gene product (PP3);
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	RCV000677500	SCV002817426	pathogenic	Mucopolysaccharidosis type 6	2022-12-24	criteria provided, single submitter	clinical testing	A heterozygous missense variation in exon 1 of ARSB gene that results in amino acid substitution of Aspargine for Aspartic acid at codon 53 was detected. The observed variant c.157G>A (p.Asp53Asn) has not been reported in the 1000 genomes and gnomAD databases. The in-silico predictions for the variant is disease causing by MutationTaster2, SIFT and PROVEAN. In summary, the variant is pathogenic.
Baylor Genetics	RCV000677500	SCV004209792	likely pathogenic	Mucopolysaccharidosis type 6	2023-06-08	criteria provided, single submitter	clinical testing