Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000574791 | SCV000664782 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-11-01 | criteria provided, single submitter | clinical testing | The c.1109dupA pathogenic mutation, located in coding exon 8 of the ATM gene, results from a duplication of A at nucleotide position 1109, causing a translational frameshift with a predicted alternate stop codon (p.Y370*). 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. |
| Gene |
RCV000657829 | SCV000779585 | pathogenic | not provided | 2023-07-07 | criteria provided, single submitter | clinical testing | Nonsense 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); Observed in an individual with breast cancer (Decker et al., 2017); This variant is associated with the following publications: (PMID: 28580595, 28779002) |
| Invitae | RCV001057784 | SCV001222296 | pathogenic | Ataxia-telangiectasia syndrome | 2023-10-23 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr370*) 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). A different variant (c.1110C>G) giving rise to the same protein effect has been determined to be pathogenic (PMID: 12815592, 15039971). This suggests that this variant is also likely to be causative of disease. ClinVar contains an entry for this variant (Variation ID: 480878). For these reasons, this variant has been classified as Pathogenic. |
| Fulgent Genetics, |
RCV002497207 | SCV002812391 | likely pathogenic | Familial cancer of breast; Ataxia-telangiectasia syndrome | 2022-05-31 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV003465182 | SCV004210201 | likely pathogenic | Familial cancer of breast | 2023-07-04 | criteria provided, single submitter | clinical testing | |
| Myriad Genetics, |
RCV003465182 | SCV004933518 | pathogenic | Familial cancer of breast | 2024-01-12 | 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. |