ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.205_206insAAACTGGCAT (p.Ser69Ter)

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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 RCV001375631 SCV001572556 likely pathogenic Mucopolysaccharidosis, MPS-II 2014-02-01 no assertion criteria provided research The change c.205_206insAAACTGGCAT, (p.S69*fs) was found to be a novel small frame-shift insertion, where a 10 base insertion leads to frameshift change in the ORF of the translated peptide leading to substitution of a hydroxyl-containing polar neutral amino acid Serine at 69 position by a stop codon leading to truncation of the protein. It was detected in hemizygous state in two of the severely affected sibs in a family from Uttrakhand state of India.

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