ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.458G>A (p.Trp153Ter)

dbSNP: rs2124055460
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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 RCV001390470 SCV001592210 pathogenic Mucopolysaccharidosis, MPS-II 2022-04-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp153*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with IDS-related conditions. ClinVar contains an entry for this variant (Variation ID: 1076526). For these reasons, this variant has been classified as Pathogenic.

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