ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.439C>T (p.Gln147Ter)

dbSNP: rs1389029860
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV001264188 SCV001442290 likely pathogenic Mucopolysaccharidosis, MPS-I-H/S 2019-05-16 criteria provided, single submitter clinical testing
Invitae RCV002537667 SCV003225766 pathogenic Mucopolysaccharidosis type 1 2022-08-20 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This sequence change creates a premature translational stop signal (p.Gln147*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with IDUA-related conditions. ClinVar contains an entry for this variant (Variation ID: 984179). For these reasons, this variant has been classified as Pathogenic.

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