Submissions for variant NM_000202.8(IDS):c.1506G>T (p.Trp502Cys)

dbSNP: rs2124648374

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	RCV001376699	SCV005089619	likely pathogenic	Mucopolysaccharidosis, MPS-II	2024-06-07	criteria provided, single submitter	literature only	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), Missense change at the same amino acid residue as a pathogenic variant (PM5_Moderate), Missense variant in a gene with a low rate of benign missense variation (PP2_Supporting), Multiple lines of computational evidence support a deleterious effect (PP3_Supporting), Patient’s phenotype or family history highly specific for the disease (PP4_Moderate)
Pediatrics, All India Institute of Medical Sciences, New Delhi	RCV001376699	SCV001573791	affects	Mucopolysaccharidosis, MPS-II	2014-04-10	no assertion criteria provided	research	The change c.1506G>T (p.W502C) was found to be a missense variant, where the aromatic nonpolar neutral amino acid Tryptophan at 502 position was substituted by sulfur-containing nonpolar neutral amino acid Cysteine. It was detected in a hemizygous state in one patient with attenuated phenotype from UP, India.