Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000671246 | SCV000796203 | likely pathogenic | Ataxia-telangiectasia syndrome | 2017-12-05 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000671246 | SCV004376069 | pathogenic | Ataxia-telangiectasia syndrome | 2022-12-07 | 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: 555424). This variant is also known as c.6592_6593delCT. This premature translational stop signal has been observed in individual(s) with developmental disorders (PMID: 32005694). This variant is present in population databases (rs747057367, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Ser2199*) 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). |
| Myriad Genetics, |
RCV004026121 | SCV004932996 | pathogenic | Familial cancer of breast | 2024-01-30 | 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. |
| Ambry Genetics | RCV004026122 | SCV005019031 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-10-26 | criteria provided, single submitter | clinical testing | The c.6596_6597delCT pathogenic mutation, located in coding exon 45 of the ATM gene, results from a deletion of two nucleotides at nucleotide positions 6596 to 6597, causing a translational frameshift with a predicted alternate stop codon (p.S2199*). This variant has been identified in trans with a ATM likely pathogenic variant in an individual diagnosed with clinical features of Ataxia-Telangiectasia (Sun J et al. Clin Transl Immunology, 2020 May;9:e1138). In addition to the clinical data presented in the literature, 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. |
| Laboratory for Genotyping Development, |
RCV003163064 | SCV002758400 | pathogenic | Gastric cancer | 2021-07-01 | no assertion criteria provided | research |