ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.596_599del (p.Lys199fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001243493 SCV001416657 pathogenic Mucopolysaccharidosis, MPS-II 2019-11-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys199Argfs*13) 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). This variant has been observed in individual(s) with Hunter syndrome (PMID: 7866405, 26762690). This variant is also known as 717del4 in the literature. Loss-of-function variants in IDS are known to be pathogenic (PMID: 8940265, 9875019). For these reasons, this variant has been classified as Pathogenic.
Pediatrics,All India Institute of Medical Sciences, New Delhi RCV001243493 SCV001572769 likely pathogenic Mucopolysaccharidosis, MPS-II 2014-07-01 no assertion criteria provided research The change c.596_599delAACA, (p.K199Rfs*13) was found to be a novel small frame-shift deletion variant in which four base deletion leads to frameshift change in the ORF of the translated peptide leading to the substitution of basic polar amino acid Lysine at 199 position by another basic polar amino acid Arginine. This leads to change in peptide sequence and formation of a stop codon 13 amino acid downstream the mutation. In silico analysis by the web tool Mutation Taster characterise it as a "Disease causing" pathogenic variant. It was detected in two families, one with two affected male sibs and other with the single affected male patient all were presented with attenuated phenotypes and hailed from Delhi.

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