Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000276190 | SCV000337714 | pathogenic | not provided | 2015-12-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000819031 | SCV000959672 | pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 2023-11-07 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg111Glyfs*4) in the PLOD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PLOD1 are known to be pathogenic (PMID: 10874315, 21699693). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PLOD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 284903). For these reasons, this variant has been classified as Pathogenic. |