Submissions for variant NM_000202.8(IDS):c.241C>T (p.Gln81Ter)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Revvity Omics, Revvity	RCV003140688	SCV003825356	pathogenic	Mucopolysaccharidosis, MPS-II	2023-01-09	criteria provided, single submitter	clinical testing
Neuberg Centre For Genomic Medicine, NCGM	RCV003140688	SCV004047211	pathogenic	Mucopolysaccharidosis, MPS-II		criteria provided, single submitter	clinical testing	The IDS c.241C>T variant has been reported in hemizygous state in individuals affected with Mucopolysaccharidosis II (Wraith et. al., 2008). Experimental studies have shown possible use of antisense oligonucleotide therapy for redirecting abnormal pre-mRNA splicing in the IDS gene (Liliana et. al., 2015). The c.241C>T variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant has not been reported to the ClinVar database. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Pathogenic.
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova	RCV003140688	SCV005089666	pathogenic	Mucopolysaccharidosis, MPS-II	2024-06-07	criteria provided, single submitter	literature only	Null variant (PVS1_VeryStrong), In vitro or in vivo functional studies supportive of a damaging effect (PS3_Moderate), Absent from controls (or at low frequency) in gnomAD database (PM2_Moderate), Patient’s phenotype or family history highly specific for the disease (PP4_Moderate)