ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.309C>G (p.Tyr103Ter)

dbSNP: rs1174495581
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001385541 SCV001585430 pathogenic Mucopolysaccharidosis, MPS-II 2020-02-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in IDS are known to be pathogenic (PMID: 8940265, 9875019). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with MPS II (PMID: 10738003, Invitae). ClinVar contains an entry for this variant (Variation ID: 558998). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr103*) in the IDS gene. It is expected to result in an absent or disrupted protein product.
Mayo Clinic Laboratories, Mayo Clinic RCV000675883 SCV000801609 pathogenic not provided 2016-12-30 no assertion criteria provided clinical testing

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