Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000218880 | SCV000277850 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-03-30 | criteria provided, single submitter | clinical testing | The p.E834* pathogenic mutation (also known as c.2500G>T), located in coding exon 16 of the ATM gene, results from a G to T substitution at nucleotide position 2500. This changes the amino acid from a glutamic acid to a stop codon within coding exon 16. 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 |
RCV000544182 | SCV000622335 | pathogenic | Ataxia-telangiectasia syndrome | 2023-02-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu834*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 233475). For these reasons, this variant has been classified as Pathogenic. |
| Baylor Genetics | RCV003469080 | SCV004212103 | likely pathogenic | Familial cancer of breast | 2023-01-24 | criteria provided, single submitter | clinical testing | |
| Myriad Genetics, |
RCV003469080 | SCV004933153 | pathogenic | Familial cancer of breast | 2024-01-18 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |