ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.525G>A (p.Trp175Ter)

dbSNP: rs776305028
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV001264189 SCV001442291 likely pathogenic Mucopolysaccharidosis, MPS-I-H/S 2020-01-14 criteria provided, single submitter clinical testing
Baylor Genetics RCV001335171 SCV001528255 pathogenic Hurler syndrome 2018-10-05 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001880075 SCV002243222 pathogenic Mucopolysaccharidosis type 1 2022-04-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 984180). This variant has not been reported in the literature in individuals affected with IDUA-related conditions. This variant is present in population databases (rs776305028, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Trp175*) in the IDUA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IDUA are known to be pathogenic (PMID: 11735025, 21480867).

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