ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.984del (p.Ile329fs)

dbSNP: rs1602734459
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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 RCV000810354 SCV000950550 pathogenic Mucopolysaccharidosis, MPS-II 2018-10-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile329Leufs*11) in the IDS gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in IDS are known to be pathogenic (PMID: 8940265, 9875019). This variant has not been reported in the literature in individuals with IDS-related disease. This variant is not present in population databases (ExAC no frequency).

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