ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.1375G>T (p.Glu459Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatrics,All India Institute of Medical Sciences, New Delhi RCV001375852 SCV001572773 likely pathogenic Mucopolysaccharidosis, MPS-II 2014-10-01 no assertion criteria provided research The change c.1375G>T (p.E459*) was found to be a nonsense variant, where the polar neutral amino acid Glutamine at 459 position was substituted by stop codon leading to early truncation of the peptide. In silico analysis by the web tool Mutation Taster characterise it as a "Disease causing" pathogenic variant. It was detected in a patient with severe phenotype from Rajasthan, India.

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