Submissions for variant NM_000202.8(IDS):c.1181-1G>C

dbSNP: rs864622777

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences	RCV001291942	SCV001480481	pathogenic	Mucopolysaccharidosis, MPS-II		criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV001291942	SCV003825301	pathogenic	Mucopolysaccharidosis, MPS-II	2021-12-29	criteria provided, single submitter	clinical testing
Neuberg Centre For Genomic Medicine, NCGM	RCV001291942	SCV004100443	pathogenic	Mucopolysaccharidosis, MPS-II		criteria provided, single submitter	clinical testing	The splice acceptor variant c.1181-1G>C in IDS (NM_000202.8) has been reported previously in an affected patient (Amartino H et al). It has submitted to ClinVar as Pathogenic. The c.1181-1G>C variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant affects an invariant splice nucleotide. Though it is present in the last exon, it has been classified as Pathogenic as it has been reported previously in similarly affected patients.
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova	RCV001291942	SCV005089459	pathogenic	Mucopolysaccharidosis, MPS-II	2024-06-07	criteria provided, single submitter	literature only	Null variant (PVS1_Strong), 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)