Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV004724037 | SCV005332094 | uncertain significance | not provided | 2023-05-19 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 28637624, 28555414) |
| Ambry Genetics | RCV004981177 | SCV005585050 | uncertain significance | Inborn genetic diseases | 2024-12-03 | criteria provided, single submitter | clinical testing | The p.E355K variant (also known as c.1063G>A), located in coding exon 6 of the ETV6 gene, results from a G to A substitution at nucleotide position 1063. The glutamic acid at codon 355 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear. |
| St. |
RCV005055242 | SCV005689031 | uncertain significance | Thrombocytopenia 5 | 2024-08-24 | criteria provided, single submitter | clinical testing | The ETV6 c.1063G>A (p.Glu355Lys) missense change is absent in gnomAD v2.1.1 (https://gnomad.broadinstitute.org). The in silico tool REVEL is inconclusive about a pathogenic or benign effect of this variant on protein function, and to our knowledge functional studies have not been performed. To our knowledge, this variant has not been reported in the literature in individuals with ETV6-related disease. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance. |