Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000792346 | SCV000931635 | pathogenic | Mucopolysaccharidosis type 1 | 2023-08-31 | criteria provided, single submitter | clinical testing | This sequence change affects the initiator methionine of the IDUA mRNA. The next in-frame methionine is located at codon 133. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. Disruption of the initiator codon has been observed in individuals with mucopolysaccharidosis type I (PMID: 21480867). ClinVar contains an entry for this variant (Variation ID: 639529). For these reasons, this variant has been classified as Pathogenic. |
Natera, |
RCV000792346 | SCV002083073 | pathogenic | Mucopolysaccharidosis type 1 | 2020-07-16 | no assertion criteria provided | clinical testing |