Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002241071 | SCV001381020 | likely pathogenic | Ehlers-Danlos syndrome, classic type, 1 | 2019-07-06 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in COL5A1 are known to be pathogenic (PMID: 23587214). This variant has been observed in an individual affected with clinical features of Ehlers-Danlos syndrome (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 14 of the COL5A1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. |