Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000222588 | SCV000274027 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-09-16 | criteria provided, single submitter | clinical testing | The c.2295delT pathogenic mutation, located in coding exon 14 of the ATM gene, results from a deletion of one nucleotide at nucleotide position 2295, causing a translational frameshift with a predicted alternate stop codon (p.N765Kfs*12). 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. |
Labcorp Genetics |
RCV000627988 | SCV000748875 | pathogenic | Ataxia-telangiectasia syndrome | 2024-01-09 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asn765Lysfs*12) 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: 230468). For these reasons, this variant has been classified as Pathogenic. |
Counsyl | RCV000627988 | SCV000790312 | likely pathogenic | Ataxia-telangiectasia syndrome | 2017-03-10 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV004020655 | SCV004931435 | pathogenic | Familial cancer of breast | 2024-01-17 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |