ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.121_123del (p.Leu41del)

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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 RCV001375841 SCV001572613 likely pathogenic Mucopolysaccharidosis, MPS-II 2014-05-01 no assertion criteria provided research The variant c.121_123delCTC (p.L41del) was found to be a small in-frame deletion, where the peptide sequence gets shortened by an aliphatic nonpolar neutral amino acid, Leucine at 41 position. It was detected in the hemizygous condition in one of the patients with sever MPS-2 phenotype from Uttarpradesh state of India.

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