ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.299+1212del

dbSNP: rs1553915188
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671349 SCV000796314 uncertain significance Hurler syndrome 2017-12-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001868254 SCV002125326 uncertain significance not provided 2021-04-24 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with SLC26A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 555513). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu593Argfs*30) in the SLC26A1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 109 amino acid(s) of the SLC26A1 protein.

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