Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000569401 | SCV000667011 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-03-13 | criteria provided, single submitter | clinical testing | The c.3813_3815delAGA variant (also known as p.E1271del) is located in coding exon 25 of the RAD50 gene. This variant results from an in-frame AGA deletion at nucleotide positions 3813 to 3815. This results in the in-frame deletion of a glutamic acid at codon 1271. This amino acid position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Invitae | RCV000569401 | SCV000753310 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-11-13 | criteria provided, single submitter | clinical testing | This variant, c.3813_3815del, results in the deletion of 1 amino acid(s) of the RAD50 protein (p.Glu1271del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs776601293, gnomAD 0.02%). This variant has been observed in individual(s) with pancreatic cancer (PMID: 27732944, 27783279). ClinVar contains an entry for this variant (Variation ID: 482096). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. |
| Cancer Genomics Group, |
RCV001030513 | SCV001193713 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2019-05-01 | criteria provided, single submitter | research | |
| Baylor Genetics | RCV003465207 | SCV004207447 | uncertain significance | Nijmegen breakage syndrome-like disorder | 2022-03-27 | criteria provided, single submitter | clinical testing |