Submissions for variant NM_000202.8(IDS):c.356del (p.Ile119fs)

dbSNP: rs2124063133

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova	RCV001375873	SCV005089004	pathogenic	Mucopolysaccharidosis, MPS-II	2024-06-07	criteria provided, single submitter	literature only	Null variant (PVS1_VeryStrong), 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)
Pediatrics, All India Institute of Medical Sciences, New Delhi	RCV001375873	SCV001572774	likely pathogenic	Mucopolysaccharidosis, MPS-II	2014-11-01	no assertion criteria provided	research	The variant c.356_356delT (p.I119Tfs*11) was found to be a novel small frame-shift deletion, where a single base deletion leads to frameshift change in the ORF of the translated peptide leading to the substitution of aliphatic nonpolar neutral amino acid Isoleucine at 119 position by a hydroxyl-containing polar neutral amino acid Threonine. This leads to change in peptide sequence and formation of a stop codon change at 11 amino acid downstream of the mutation. In silico analysis by the web tool Mutation Taster characterise it as a "Disease causing" pathogenic variant. It was detected in one patient with attenuated phenotype from Uttar Pradesh,India.