ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1828+4C>T

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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 RCV003090024 SCV003480299 uncertain significance Mucopolysaccharidosis type 1 2022-08-12 criteria provided, single submitter clinical testing This sequence change falls in intron 13 of the IDUA gene. It does not directly change the encoded amino acid sequence of the IDUA protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs370221627, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with IDUA-related conditions. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
PreventionGenetics, part of Exact Sciences RCV003943781 SCV004765896 likely benign IDUA-related disorder 2019-03-05 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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