ClinVar Miner

Submissions for variant NM_000302.4(PLOD1):c.776G>A (p.Arg259His)

gnomAD frequency: 0.00076  dbSNP: rs144226170
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
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.
GeneDx 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)
PreventionGenetics, part of Exact Sciences 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).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.