Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000658039 | SCV000779810 | uncertain significance | not provided | 2018-05-11 | criteria provided, single submitter | clinical testing | The c.1525-3dupC variant in the IDUA gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1525-3dupC variant results in the duplication of one nucleotide at the intron 10/exon 11 boundary. Although this variant may reduce the quality of the splice acceptor site in intron 10, splice prediction algorithms are inconclusive about the effect of this deletion on splicing. In the absence of RNA/functional studies, the actual effect of c.1525-3dupC in this individual is unknown. The c.1525-3dupC variant is observed in 1/5,236 (0.02%) alleles from individuals of Ashkenazi Jewish background and in 5/65,772 (0.008%) total alleles in large population cohorts (Lek et al., 2016).] We interpret c.1525-3dupC as a variant of uncertain significance. |
Invitae | RCV001079248 | SCV001077497 | likely benign | Mucopolysaccharidosis type 1 | 2024-01-06 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001079248 | SCV001457287 | uncertain significance | Mucopolysaccharidosis type 1 | 2020-01-17 | no assertion criteria provided | clinical testing |