Submissions for variant NM_000202.8(IDS):c.438C>T (p.Thr146=)

gnomAD frequency: 0.32051  dbSNP: rs1141608

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078365	SCV000110211	benign	not specified	2013-08-08	criteria provided, single submitter	clinical testing
IIFP, CONICET-UNLP	RCV000206047	SCV000262543	benign	Mucopolysaccharidosis, MPS-II	2007-05-31	criteria provided, single submitter	research
PreventionGenetics, part of Exact Sciences	RCV000078365	SCV000302962	benign	not specified		criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000589894	SCV000695963	benign	not provided	2016-06-08	criteria provided, single submitter	clinical testing	Variant summary: The IDS c.438C>T (p.Thr146Thr) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. 5/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 24360/87524 control chromosomes (including 2605 homozygotes and 9302 hemizygotes) at a frequency of 0.2783237, which is approximately 96 times the estimated maximal expected allele frequency of a pathogenic IDS variant (0.0028868). Thus this variant is a common polymorphism found in the general population. In addition, multiple clinical diagnostic laboratories have classified this variant as benign and the variant is considered a common polymorphism in the literature. Taken together, this variant is classified as Benign.
Ambry Genetics	RCV002311548	SCV000846092	benign	Inborn genetic diseases	2014-11-24	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae	RCV000206047	SCV001717861	benign	Mucopolysaccharidosis, MPS-II	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000589894	SCV001904969	benign	not provided	2018-06-25	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000206047	SCV000734748	benign	Mucopolysaccharidosis, MPS-II		no assertion criteria provided	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000589894	SCV000801607	benign	not provided	2016-02-03	no assertion criteria provided	clinical testing
Natera, Inc.	RCV000206047	SCV001462905	benign	Mucopolysaccharidosis, MPS-II	2020-09-16	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000078365	SCV001918845	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000078365	SCV001968525	benign	not specified		no assertion criteria provided	clinical testing