Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001023570 | SCV001185470 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-07-02 | criteria provided, single submitter | clinical testing | The c.5118_5121delAGAA pathogenic mutation, located in coding exon 33 of the ATM gene, results from a deletion of 4 nucleotides at nucleotide positions 5118 to 5121, causing a translational frameshift with a predicted alternate stop codon (p.K1706Nfs*7). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
| Invitae | RCV001862266 | SCV002229228 | pathogenic | Ataxia-telangiectasia syndrome | 2023-04-20 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 825460). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This sequence change creates a premature translational stop signal (p.Lys1706Asnfs*7) in the ATM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). |
| Fulgent Genetics, |
RCV002505548 | SCV002813879 | likely pathogenic | Familial cancer of breast; Ataxia-telangiectasia syndrome | 2021-12-30 | criteria provided, single submitter | clinical testing |