ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.209del (p.Gln70fs)

dbSNP: rs2153015644
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001383254 SCV001582342 pathogenic Mucopolysaccharidosis type 1 2022-08-09 criteria provided, single submitter clinical testing 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 disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1070926). 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). This sequence change creates a premature translational stop signal (p.Gln70Argfs*38) 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).
Revvity Omics, Revvity RCV001780320 SCV002023104 pathogenic not provided 2020-02-23 criteria provided, single submitter clinical testing

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