ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.30dup (p.Leu11fs)

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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 RCV003622689 SCV004488649 pathogenic Mucopolysaccharidosis, MPS-II 2022-11-29 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with IDS-related conditions. This sequence change creates a premature translational stop signal (p.Leu11Serfs*36) in the IDS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IDS are known to be pathogenic (PMID: 8940265, 9875019).

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