Submissions for variant NM_000203.5(IDUA):c.1045_1047del (p.Asp349del)

dbSNP: rs1230096882

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000674084	SCV000799358	likely pathogenic	Hurler syndrome	2018-04-16	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV001784291	SCV002016667	likely pathogenic	not provided	2022-01-03	criteria provided, single submitter	clinical testing
Invitae	RCV001861834	SCV002312979	pathogenic	Mucopolysaccharidosis type 1	2023-07-14	criteria provided, single submitter	clinical testing	This variant, c.1045_1047del, results in the deletion of 1 amino acid(s) of the IDUA protein (p.Asp349del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.06%). This variant has been observed in individuals with mucopolysaccharidosis type I (PMID: 21394825, 27392569). ClinVar contains an entry for this variant (Variation ID: 557885). This variant disrupts a region of the IDUA protein in which other variant(s) (p.Asp349Tyr) have been determined to be pathogenic (PMID: 12203999, 12559846, 28752568, 30809705). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV000674084	SCV004810094	likely pathogenic	Hurler syndrome	2024-04-04	criteria provided, single submitter	clinical testing