Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000214496 | SCV000275353 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-01-05 | criteria provided, single submitter | clinical testing | The p.D242N variant (also known as c.724G>A), located in coding exon 5 of the RAD51C gene, results from a G to A substitution at nucleotide position 724. The aspartic acid at codon 242 is replaced by asparagine, an amino acid with highly similar properties. This alteration was reported as a variant of unknown significance in one patient in a cohort of 937 Chinese breast cancer patients who underwent multi-gene panel testing (Li JY et al. Int. J. Cancer 2019 01;144(2):281-289). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear. |
Counsyl | RCV000409976 | SCV000490085 | uncertain significance | Fanconi anemia complementation group O | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000411579 | SCV000490086 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 3 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000709511 | SCV000839335 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2018-07-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000409976 | SCV001393354 | uncertain significance | Fanconi anemia complementation group O | 2023-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 242 of the RAD51C protein (p.Asp242Asn). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with a personal and/or family history of hereditary breast and/or ovarian cancer (PMID: 23704328). ClinVar contains an entry for this variant (Variation ID: 231486). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt RAD51C protein function. 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. |
Myriad Genetics, |
RCV000411579 | SCV004019967 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 3 | 2023-04-05 | criteria provided, single submitter | clinical testing | This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk. |
Baylor Genetics | RCV000411579 | SCV004207936 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 3 | 2023-09-20 | criteria provided, single submitter | clinical testing |