ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.1254del (p.Pro419fs)

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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 RCV001375851 SCV001572772 likely pathogenic Mucopolysaccharidosis, MPS-II 2014-09-01 no assertion criteria provided research The change c.1254_1254delT (p.P419Hfs*21) 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 cyclic nonpolar neutral amino acid Proline at 419 position by aromatic basic polar amino acid Histidine. This leads to a change in peptide sequence and formation of a stop codon after 21 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 severe phenotype from Delhi, India.

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