Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000317735 | SCV000338090 | pathogenic | not provided | 2015-12-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000809637 | SCV000949800 | pathogenic | Qualitative or quantitative defects of dysferlin | 2018-12-28 | criteria provided, single submitter | clinical testing | Disruption of this splice site has been observed in several individuals affected with dysferlinopathy (PMID: 27647186). ClinVar contains an entry for this variant (Variation ID: 285177). This variant is present in population databases (rs189923208, ExAC 0.01%). This sequence change affects an acceptor splice site in intron 17 of the DYSF gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DYSF are known to be pathogenic (PMID: 17698709, 20301480). |