ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.757G>T (p.Gly253Cys)

gnomAD frequency: 0.00001  dbSNP: rs546933529
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669801 SCV000794587 uncertain significance Hurler syndrome 2017-09-29 criteria provided, single submitter clinical testing
Invitae RCV000916227 SCV001061460 likely benign Mucopolysaccharidosis type 1 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV001265722 SCV001443891 uncertain significance Inborn genetic diseases 2017-12-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001375507 SCV001572355 uncertain significance not specified 2021-04-15 criteria provided, single submitter clinical testing Variant summary: IDUA c.757G>T (p.Gly253Cys) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.0006 in 218446 control chromosomes, predominantly at a frequency of 0.0046 within the South Asian subpopulation in the gnomAD database. The observed variant frequency within South Asian control individuals in the gnomAD database is approximately 1.7 fold of the estimated maximal expected allele frequency for a pathogenic variant in IDUA causing Mucopolysaccharidosis Type 1 phenotype (0.0027), strongly suggesting that the variant is a benign polymorphism found primarily in populations of South Asian origin. c.757G>T has been reported in the literature in at least an individual (in homozygous state) affected with Mucopolysaccharidosis Type 1 - subtype Hurler-Scheie (Uttarilli_2016). No enzymatic activity was found from patient derived leucocytes who was homozygous for this variant of interest (Uttarilli_2016). Four ClinVar submitters (evaluation after 2014) cite the variant as uncertain significance (n=2) or likely benign (n=2). Based on the evidence outlined above, the variant was classified as uncertain significance.
Revvity Omics, Revvity RCV003133497 SCV003817591 uncertain significance not provided 2023-04-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV000916227 SCV001457280 likely benign Mucopolysaccharidosis type 1 2020-06-08 no assertion criteria provided clinical testing

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