ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1276_1282dup (p.Gln428fs)

dbSNP: rs1445719596
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673692 SCV000798925 likely pathogenic Hurler syndrome 2018-03-29 criteria provided, single submitter clinical testing
Invitae RCV001232855 SCV001405427 pathogenic Mucopolysaccharidosis type 1 2023-01-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln428Profs*83) 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). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 557537). This variant has not been reported in the literature in individuals affected with IDUA-related conditions. This variant is not present in population databases (gnomAD no frequency).
PreventionGenetics, part of Exact Sciences RCV003892522 SCV004711031 likely pathogenic IDUA-related condition 2023-12-11 criteria provided, single submitter clinical testing The IDUA c.1276_1282dup7 variant is predicted to result in a frameshift and premature protein termination (p.Gln428Profs*83). To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Frameshift variants in IDUA are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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