ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.1452_1453TA[1] (p.Ile485fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001035366 SCV001198691 pathogenic Mucopolysaccharidosis, MPS-II 2019-12-04 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the IDS gene (p.Ile485Lysfs*13). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 66 amino acids of the IDS protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with mucopolysaccharidosis II (Invitae). This variant disrupts the C-terminus of the IDS protein. Other variant(s) that disrupt this region (p.Arg468GlyfsX17, p.Gln531*, p.Tyr536*) have been observed in individuals with IDS-related conditions (PMID: 24550654, 17091340, 24125893). This suggests that this may be a clinically significant region of the protein. For these reasons, this variant has been classified as Pathogenic.

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