ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1206G>A (p.Trp402Ter)

dbSNP: rs991612107
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671009 SCV000795944 pathogenic Hurler syndrome 2017-11-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV000671009 SCV001520419 pathogenic Hurler syndrome 2020-01-23 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV003591770 SCV004292282 pathogenic Mucopolysaccharidosis type 1 2023-07-06 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with mucopolysaccharidosis type I (PMID: 24798265). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 555230). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp402*) 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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