Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000131580 | SCV000186588 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-02-22 | criteria provided, single submitter | clinical testing | The p.G656D variant (also known as c.1967G>A), located in coding exon 10 of the BARD1 gene, results from a G to A substitution at nucleotide position 1967. The glycine at codon 656 is replaced by aspartic acid, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. 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. |
| Labcorp Genetics |
RCV000206859 | SCV000262416 | uncertain significance | Familial cancer of breast | 2024-01-11 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 656 of the BARD1 protein (p.Gly656Asp). This variant is present in population databases (rs572554455, gnomAD 0.006%). This missense change has been observed in individual(s) with neuroblastoma (PMID: 36187937). ClinVar contains an entry for this variant (Variation ID: 142451). 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. |
| Fulgent Genetics, |
RCV000206859 | SCV000895386 | uncertain significance | Familial cancer of breast | 2018-10-31 | criteria provided, single submitter | clinical testing | |
| Color Diagnostics, |
RCV000131580 | SCV001342793 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-01-05 | criteria provided, single submitter | clinical testing | This missense variant replaces glycine with aspartic acid at codon 656 of the BARD1 protein. Computational prediction suggests that this variant may not impact protein structure and function. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with neuroblastoma (PMID: 36187937). This variant has been identified in 3/251360 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
| Gene |
RCV002284364 | SCV002574686 | uncertain significance | not provided | 2022-09-16 | 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; Observed in a patient with neuroblastoma (Maurer et al. 2022); This variant is associated with the following publications: (PMID: 26307947, Maurer_2022) |
| Baylor Genetics | RCV000206859 | SCV004217227 | uncertain significance | Familial cancer of breast | 2024-02-02 | criteria provided, single submitter | clinical testing |