Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000543370 | SCV000631731 | likely benign | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002314967 | SCV000739526 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-07-26 | criteria provided, single submitter | clinical testing | The p.R259H variant (also known as c.776G>A), located in coding exon 8 of the PLOD1 gene, results from a G to A substitution at nucleotide position 776. The arginine at codon 259 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Gene |
RCV001576696 | SCV001803936 | likely benign | not provided | 2020-05-28 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID# 459826; Landrum et al., 2016) |
Prevention |
RCV003962484 | SCV004781773 | likely benign | PLOD1-related condition | 2023-01-17 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |