Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000130524 | SCV000185393 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-02-23 | criteria provided, single submitter | clinical testing | The c.4227delC pathogenic mutation, located in coding exon 27 of the ATM gene, results from a deletion of one nucleotide at nucleotide position 4227, causing a translational frameshift with a predicted alternate stop codon (p.S1411Afs*40). 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. |
| Labcorp Genetics |
RCV000802357 | SCV000942183 | pathogenic | Ataxia-telangiectasia syndrome | 2021-11-30 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser1411Alafs*40) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 141846). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is not present in population databases (gnomAD no frequency). |
| Gene |
RCV002286704 | SCV002577182 | likely pathogenic | not provided | 2022-03-31 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 28152038) |
| MGZ Medical Genetics Center | RCV002288639 | SCV002580820 | likely pathogenic | Familial cancer of breast | 2022-02-14 | criteria provided, single submitter | clinical testing | |
| Myriad Genetics, |
RCV002288639 | SCV004930416 | pathogenic | Familial cancer of breast | 2024-01-23 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |