ClinVar Miner

Submissions for variant NM_000302.4(PLOD1):c.331C>T (p.Arg111Trp)

gnomAD frequency: 0.00001  dbSNP: rs772221158
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001370880 SCV001567424 uncertain significance Ehlers-Danlos syndrome, kyphoscoliotic type 1 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 111 of the PLOD1 protein (p.Arg111Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with PLOD1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002322352 SCV002606106 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-10-21 criteria provided, single submitter clinical testing The p.R111W variant (also known as c.331C>T), located in coding exon 4 of the PLOD1 gene, results from a C to T substitution at nucleotide position 331. The arginine at codon 111 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is conserved. 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.
Fulgent Genetics, Fulgent Genetics RCV001370880 SCV002802066 uncertain significance Ehlers-Danlos syndrome, kyphoscoliotic type 1 2022-04-25 criteria provided, single submitter clinical testing

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.