ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.737del (p.Asn246fs)

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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 RCV001375843 SCV001572770 likely pathogenic Mucopolysaccharidosis, MPS-II 2014-08-01 no assertion criteria provided research The change c.736_736delA (p.N246Tfs*34) was found to be a novel small frame-shift deletion variant, where a single base deletion leads to frameshift change in the ORF of the translated peptide leading to the substitution of a polar neutral amino acid Asparagine at 246 position by hydroxyl-containing polar neutral amino acid Threonine. This leads to change in peptide sequence and formation of a stop codon change after 34 amino acid downstream of the variant. 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 Bihar.

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