Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000627594 | SCV000748594 | pathogenic | not provided | 2018-04-11 | criteria provided, single submitter | clinical testing | The c..10554dupG variant causes a frameshift starting with codon Asparagine 3519, changes thisamino acid to a Glutamic acid residue and creates a premature Stop codon at position 7 of the newreading frame, denoted p.Asn3519GlufsX7. This variant is predicted to cause loss of normal proteinfunction either through protein truncation or nonsense-mediated mRNA decay. The c.10554dupGvariant is not observed in large population cohorts (Lek et al., 2016). Although this variant has notbeen reported previously to our knowledge, other frameshift variants have been reported in theHuman Gene Mutation Database in association with dystrophinopathy (Stenson et al., 2014).Therefore, we interpret c.10554dupG as a pathogenic variant. |
| Eurofins Ntd Llc |
RCV000627594 | SCV000856622 | pathogenic | not provided | 2017-09-19 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV003621564 | SCV004407188 | pathogenic | Duchenne muscular dystrophy | 2022-10-30 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 524098). This variant has not been reported in the literature in individuals affected with DMD-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn3519Glufs*7) in the DMD gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). |