Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000494348 | SCV000581460 | pathogenic | Hereditary cancer-predisposing syndrome | 2016-05-13 | criteria provided, single submitter | clinical testing | The p.K1289* pathogenic mutation (also known as c.3865A>T), located in coding exon 25 of the ATM gene, results from an A to T substitution at nucleotide position 3865. This changes the amino acid from a lysine to a stop codon within coding exon 25. 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 | RCV001224805 | SCV001397027 | pathogenic | Ataxia-telangiectasia syndrome | 2023-10-28 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys1289*) 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 premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 32427313). ClinVar contains an entry for this variant (Variation ID: 429077). For these reasons, this variant has been classified as Pathogenic. |
Myriad Genetics, |
RCV004023292 | SCV004931584 | pathogenic | Familial cancer of breast | 2024-01-23 | 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. |