ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.514C>T (p.Arg172Ter) (rs104894860)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000011236 SCV000628123 pathogenic Mucopolysaccharidosis, MPS-II 2017-09-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg172*) in the IDS gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in several individuals affected with mucopolysaccharidosis type II (PMID: 7887413, 1639384 , 21829674, 24780617). ClinVar contains an entry for this variant (Variation ID: 10490). Loss-of-function variants in IDS are known to be pathogenic (PMID: 8940265, 9875019). For these reasons, this variant has been classified as Pathogenic.
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences RCV000011236 SCV001480205 pathogenic Mucopolysaccharidosis, MPS-II criteria provided, single submitter clinical testing
OMIM RCV000011236 SCV000031463 pathogenic Mucopolysaccharidosis, MPS-II 1992-07-01 no assertion criteria provided literature only
Pediatrics,All India Institute of Medical Sciences, New Delhi RCV000011236 SCV001573781 affects Mucopolysaccharidosis, MPS-II 2014-04-04 no assertion criteria provided research The change c.514C>T (p.R172*) was found to be a nonsense variant, where the basic polar amino acid Arginine at 172 position was substituted by stop codon leading to early truncation of the peptide. It was found in the hemizygous condition in two non-familial patients with sever MPS-II phenotype. The patients hails from the Delhi and Bihar, India.

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