Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000820161 | SCV000960860 | pathogenic | Ataxia-telangiectasia syndrome | 2021-06-15 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 662504). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser2017Cysfs*29) 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). |
| Ambry Genetics | RCV001024838 | SCV001186924 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-12-15 | criteria provided, single submitter | clinical testing | The c.6049_6052delAGTT pathogenic mutation, located in coding exon 40 of the ATM gene, results from a deletion of 4 nucleotides at nucleotide positions 6049 to 6052, causing a translational frameshift with a predicted alternate stop codon (p.S2017Cfs*29). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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. |
| Myriad Genetics, |
RCV004029029 | SCV004933786 | pathogenic | Familial cancer of breast | 2024-01-29 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
| Gene |
RCV004588291 | SCV005079187 | pathogenic | not provided | 2024-02-07 | 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); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Has not been previously published as pathogenic or benign to our knowledge |