Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001233542 | SCV001406142 | uncertain significance | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 2022-08-23 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 372 of the PLOD1 protein (p.Asp372Gly). This variant is present in population databases (rs377497101, gnomAD 0.02%). 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: 960082). 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: "Benign"; 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 | RCV002436913 | SCV002747954 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2021-07-22 | criteria provided, single submitter | clinical testing | The p.D372G variant (also known as c.1115A>G), located in coding exon 11 of the PLOD1 gene, results from an A to G substitution at nucleotide position 1115. The aspartic acid at codon 372 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003323827 | SCV004028562 | uncertain significance | not specified | 2023-07-21 | criteria provided, single submitter | clinical testing |