ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.356del (p.Ile119fs)

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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 RCV001375873 SCV001572774 likely pathogenic Mucopolysaccharidosis, MPS-II 2014-11-01 no assertion criteria provided research The variant c.356_356delT (p.I119Tfs*11) was found to be a novel small frame-shift deletion, where a single base deletion leads to frameshift change in the ORF of the translated peptide leading to the substitution of aliphatic nonpolar neutral amino acid Isoleucine at 119 position by a hydroxyl-containing polar neutral amino acid Threonine. This leads to change in peptide sequence and formation of a stop codon change at 11 amino acid downstream of the mutation. In silico analysis by the web tool Mutation Taster characterise it as a "Disease causing" pathogenic variant. It was detected in one patient with attenuated phenotype from Uttar Pradesh,India.

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