ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1602del (p.Leu535fs)

dbSNP: rs1553917566
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667780 SCV000792284 likely pathogenic Hurler syndrome 2017-06-13 criteria provided, single submitter clinical testing
Invitae RCV001244712 SCV001417954 pathogenic Mucopolysaccharidosis type 1 2022-08-18 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: 552506). This premature translational stop signal has been observed in individual(s) with MPS I (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu535Phefs*25) 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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