Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV003493959 | SCV002745715 | uncertain significance | not specified | 2024-10-01 | criteria provided, single submitter | clinical testing | The p.K372R variant (also known as c.1115A>G), located in coding exon 3 of the TERF2IP gene, results from an A to G substitution at nucleotide position 1115. The lysine at codon 372 is replaced by arginine, an amino acid with highly similar 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. |
| Labcorp Genetics |
RCV003102224 | SCV003272689 | uncertain significance | not provided | 2024-11-04 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 372 of the TERF2IP protein (p.Lys372Arg). This variant is present in population databases (rs145251422, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with TERF2IP-related conditions. ClinVar contains an entry for this variant (Variation ID: 1796092). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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. |
| Center for Genomic Medicine, |
RCV003493959 | SCV004242743 | uncertain significance | not specified | 2025-03-04 | criteria provided, single submitter | clinical testing |