Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001233294 | SCV001405881 | uncertain significance | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 2022-08-16 | criteria provided, single submitter | clinical testing | 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. 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"). ClinVar contains an entry for this variant (Variation ID: 959867). This variant has not been reported in the literature in individuals affected with PLOD1-related conditions. This variant is present in population databases (rs370498584, gnomAD 0.02%). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 714 of the PLOD1 protein (p.Thr714Ile). |
Ambry Genetics | RCV002429997 | SCV002730090 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-06-02 | criteria provided, single submitter | clinical testing | The p.T714I variant (also known as c.2141C>T), located in coding exon 19 of the PLOD1 gene, results from a C to T substitution at nucleotide position 2141. The threonine at codon 714 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |