Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000990714 | SCV001141740 | pathogenic | Duchenne muscular dystrophy | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000990714 | SCV003445040 | pathogenic | Duchenne muscular dystrophy | 2022-09-07 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site results in skipping of exon 19 and introduces a premature termination codon (PMID: 25007885). The resulting mRNA is expected to undergo nonsense-mediated decay. ClinVar contains an entry for this variant (Variation ID: 803916). Disruption of this splice site has been observed in individual(s) with Duchenne muscular dystrophy (PMID: 25007885). In at least one individual the variant was observed to be de novo. This sequence change affects a donor splice site in intron 19 of the DMD gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product. |