ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.438C>T (p.Thr146=) (rs1141608)

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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 RCV000078365 SCV000110211 benign not specified 2013-08-08 criteria provided, single submitter clinical testing
LISIN Facultad de Ciencias Exactas, Universidad Nacional de La Plata RCV000206047 SCV000262543 benign Mucopolysaccharidosis, MPS-II 2007-05-31 criteria provided, single submitter research
PreventionGenetics,PreventionGenetics RCV000078365 SCV000302962 benign not specified criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America 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 RCV000715264 SCV000846092 benign History of neurodevelopmental disorder 2014-11-24 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 Genetic Testing Laboratories,Mayo Clinic RCV000589894 SCV000801607 benign not provided 2016-02-03 no assertion criteria provided clinical testing

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