Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000130253 | SCV000185097 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-07-21 | criteria provided, single submitter | clinical testing | The p.G1130* pathogenic mutation (also known as c.3388G>T), located in coding exon 22 of the ATM gene, results from a G to T substitution at nucleotide position 3388. This changes the amino acid from a glycine to a stop codon within coding exon 22. 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 | RCV001223207 | SCV001395345 | pathogenic | Ataxia-telangiectasia syndrome | 2021-11-05 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly1130*) 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 has not been reported in the literature in individuals affected with ATM-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 141653). |
Revvity Omics, |
RCV001223207 | SCV002021929 | pathogenic | Ataxia-telangiectasia syndrome | 2019-01-08 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV004019737 | SCV004933449 | pathogenic | Familial cancer of breast | 2024-01-22 | 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. |