Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000790663 | SCV000225205 | pathogenic | not provided | 2012-12-06 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000173987 | SCV000793192 | likely pathogenic | Hurler syndrome | 2017-08-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001387944 | SCV001588712 | pathogenic | Mucopolysaccharidosis type 1 | 2023-04-23 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 92634). This variant is also known as IVS11+5G>A. This variant has been observed in individual(s) with mucopolysaccharidosis type I (PMID: 12203999, 19396826, 21394825). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 11 of the IDUA gene. It does not directly change the encoded amino acid sequence of the IDUA protein. It affects a nucleotide within the consensus splice site. |
Revvity Omics, |
RCV000790663 | SCV002016677 | likely pathogenic | not provided | 2019-11-07 | criteria provided, single submitter | clinical testing |