ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.241-4A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002999233 SCV003297340 uncertain significance Mucopolysaccharidosis, MPS-II 2021-05-13 criteria provided, single submitter clinical testing This sequence change falls in intron 2 of the IDS gene. It does not directly change the encoded amino acid sequence of the IDS protein. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with IDS-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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