Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000520761 | SCV000619517 | likely pathogenic | not provided | 2017-07-20 | criteria provided, single submitter | clinical testing | This variant is denoted ATM c.3532A>T at the cDNA level and p.Lys1178Ter (K1178X) at the proteinlevel. The substitution creates a nonsense variant, which changes a Lysine to a premature stop codon (AAA>TAA), andis predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNAdecay. Although this variant has not, to our knowledge, been reported in the literature, it is considered likely pathogenic |
Ambry Genetics | RCV002456010 | SCV002614067 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-08-28 | criteria provided, single submitter | clinical testing | The p.K1178* pathogenic mutation (also known as c.3532A>T), located in coding exon 23 of the ATM gene, results from an A to T substitution at nucleotide position 3532. This changes the amino acid from a lysine to a stop codon within coding exon 23. 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 | RCV003605629 | SCV004499791 | pathogenic | Ataxia-telangiectasia syndrome | 2023-02-23 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys1178*) 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: 450892). For these reasons, this variant has been classified as Pathogenic. |
Myriad Genetics, |
RCV004023582 | SCV004931773 | 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. |