Submissions for variant NM_000202.8(IDS):c.702C>A (p.Tyr234Ter)

dbSNP: rs1569560489

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000691787	SCV000819578	pathogenic	Mucopolysaccharidosis, MPS-II	2024-01-12	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Tyr234*) in the IDS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IDS are known to be pathogenic (PMID: 8940265, 9875019). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with mucopolysaccharidosis type II (PMID: 8830188). ClinVar contains an entry for this variant (Variation ID: 570827). For these reasons, this variant has been classified as Pathogenic.
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova	RCV000691787	SCV005089193	pathogenic	Mucopolysaccharidosis, MPS-II	2024-06-07	criteria provided, single submitter	literature only	Null variant (PVS1_VeryStrong), Prevalence of the variant significantly increased in affected individuals compared with controls (PS4_Supporting), Absent from controls (or at low frequency) in gnomAD database (PM2_Moderate), Patient’s phenotype or family history highly specific for the disease (PP4_Strong)