Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001045967 | SCV001209844 | pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 2019-12-08 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gly591Valfs*13) in the PLOD1 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PLOD1 are known to be pathogenic (PMID: 10874315, 21699693). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with PLOD1-related conditions. This variant is not present in population databases (ExAC no frequency). |