Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000568927 | SCV000663639 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-12-23 | criteria provided, single submitter | clinical testing | The c.3120_3122delACA variant (also known as p.Q1040del) is located in coding exon 20 of the RAD50 gene. This variant results from an in-frame ACA deletion at nucleotide positions 3120 to 3122. This results in the in-frame deletion of a glutamine at codon 1040. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV000568927 | SCV004334098 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-10-17 | criteria provided, single submitter | clinical testing | This variant, c.3120_3122del, results in the deletion of 1 amino acid(s) of the RAD50 protein (p.Gln1040del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RAD50-related conditions. ClinVar contains an entry for this variant (Variation ID: 480406). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |