ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.1115del (p.Glu372fs)

dbSNP: rs2124005776
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001380492 SCV001578574 pathogenic Mucopolysaccharidosis, MPS-II 2020-03-22 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with IDS-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the IDS protein. Other variant(s) that disrupt this region (p.Arg443*) have been determined to be pathogenic (PMID: 1303211, 21291454, 21829674, 18500569, 27146977). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the IDS gene (p.Glu372Glyfs*19). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 179 amino acids of the IDS protein.

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