ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.2T>C (p.Met1Thr)

dbSNP: rs2124069617
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001965495 SCV002218213 pathogenic Mucopolysaccharidosis, MPS-II 2022-07-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the IDS protein in which other variant(s) (p.Asp45His) have been determined to be pathogenic (PMID: 26762690; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 1440174). Disruption of the initiator codon has been observed in individual(s) with mucopolysaccharidosis type II (PMID: 9762601). This variant is not present in population databases (gnomAD no frequency). This sequence change affects the initiator methionine of the IDS mRNA. The next in-frame methionine is located at codon 131.

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