ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.641C>T (p.Thr214Met) (rs61736892)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078368 SCV000110214 benign not specified 2014-07-08 criteria provided, single submitter clinical testing
LISIN Facultad de Ciencias Exactas, Universidad Nacional de La Plata RCV000205107 SCV000262525 pathogenic Mucopolysaccharidosis, MPS-II 2010-12-07 criteria provided, single submitter research
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587097 SCV000695964 benign not provided 2017-06-26 criteria provided, single submitter clinical testing Variant summary: The IDS c.641C>T (p.Thr214Met) variant involves the alteration of a non-conserved nucleotide and 2/4 in silico tools predict a benign outcome for this variant. This variant was found in 444/87744 control chromosomes (12 homozygotes, 100 hemizygotes) at a frequency of 0.0050602, which is approximately 2 times the estimated maximal expected allele frequency of a pathogenic IDS variant (0.0028868), suggesting this variant is likely a benign polymorphism. A publication, Chkioua_2011, cites the variant in an affected individual, who was homozygous for the pathogenic R88P variant. This variant also co-occurred with a pathogenic variant, c.1402C>T (p.R468W) in a sample tested at our laboratory. In addition, multiple clinical diagnostic laboratories classified this variant as benign. Taken together, this variant is classified as benign.
Ambry Genetics RCV000715966 SCV000846798 benign History of neurodevelopmental disorder 2014-06-27 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.
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000205107 SCV000883117 likely benign Mucopolysaccharidosis, MPS-II 2018-11-21 criteria provided, single submitter clinical testing
Invitae RCV000205107 SCV001005466 benign Mucopolysaccharidosis, MPS-II 2020-12-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV000205107 SCV001462904 benign Mucopolysaccharidosis, MPS-II 2020-09-16 no assertion criteria provided clinical testing

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