Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000991906 | SCV001143759 | likely pathogenic | not provided | 2018-11-14 | criteria provided, single submitter | clinical testing | The variant disrupts a canonical splice site, and is therefore predicted to result in the loss of a functional protein. Not found in the total gnomAD dataset, and the data is high quality (0/188911 chr). |
Invitae | RCV001235869 | SCV001408575 | pathogenic | Duchenne muscular dystrophy | 2022-08-31 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. 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: 804749). Disruption of this splice site has been observed in individuals with Duchenne or Becker muscular dystrophy (PMID: 19937601, 27234031, 30827497, 34106991). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 2 of the DMD gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). |