ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.1188del (p.Gln396fs)

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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 RCV002982828 SCV003294922 pathogenic Mucopolysaccharidosis, MPS-II 2022-01-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the IDS protein in which other variant(s) (p.Leu530Phefs*8) have been determined to be pathogenic (PMID: 17284421; Invitae; external communication). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with IDS-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln396Hisfs*44) in the IDS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 155 amino acid(s) of the IDS protein.

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