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. This variant is not present in population databases (ExAC no frequency). 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.

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