Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000574063 | SCV000667919 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-12-22 | criteria provided, single submitter | clinical testing | The p.Q1015* pathogenic mutation (also known as c.3043C>T), located in coding exon 19 of the ATM gene, results from a C to T substitution at nucleotide position 3043. This changes the amino acid from a glutamine to a stop codon within coding exon 19. 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 | RCV001057983 | SCV001222515 | pathogenic | Ataxia-telangiectasia syndrome | 2023-05-17 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 482593). 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). This sequence change creates a premature translational stop signal (p.Gln1015*) 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). |
| Baylor Genetics | RCV003459341 | SCV004213956 | likely pathogenic | Familial cancer of breast | 2021-11-21 | criteria provided, single submitter | clinical testing | |
| Myriad Genetics, |
RCV003459341 | SCV004933418 | 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. |