ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1091C>T (p.Thr364Met) (rs121965032)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588505 SCV000695965 pathogenic Mucopolysaccharidosis type 1 2016-11-15 criteria provided, single submitter clinical testing Variant summary: The IDUA c.1091C>T (p.Thr364Met) variant involves the alteration of a conserved nucleotide. 4/4 in silico tools predict a damaging outcome for this variant (SNPs&GO not captured due to low reliability index). This variant has been found in at least two unrelated MPS1 patients and is absent in 85928 control chromosomes. Functional studies showed that the variant of interest leads to decreased level of mRNA and extremely low levels of protein and enzyme activity. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.
OMIM RCV000012700 SCV000032935 pathogenic Mucopolysaccharidosis, MPS-I-H/S 1997-11-01 no assertion criteria provided literature only
Counsyl RCV000984188 SCV001132231 likely pathogenic Hurler syndrome 2019-07-12 no assertion criteria provided clinical testing
Natera, Inc. RCV000588505 SCV001461761 pathogenic Mucopolysaccharidosis type 1 2020-09-16 no assertion criteria provided clinical testing

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