ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.2T>C (p.Met1Thr)

dbSNP: rs753767675
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000792346 SCV000931635 pathogenic Mucopolysaccharidosis type 1 2023-08-31 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the IDUA mRNA. The next in-frame methionine is located at codon 133. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. Disruption of the initiator codon has been observed in individuals with mucopolysaccharidosis type I (PMID: 21480867). ClinVar contains an entry for this variant (Variation ID: 639529). For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV000792346 SCV002083073 pathogenic Mucopolysaccharidosis type 1 2020-07-16 no assertion criteria provided clinical testing

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