ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.1024C>T (p.His342Tyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001216955 SCV001388778 likely pathogenic Mucopolysaccharidosis, MPS-II 2019-04-28 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 342 of the IDS protein (p.His342Tyr). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual affected with MPS II (Hunter syndrome) (PMID: 10220152). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). This variant disrupts the p.His342 amino acid residue in IDS. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 24125893, 27146977, 26762690, 30639582 and 29801497). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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