Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000704976 | SCV000833953 | pathogenic | Ataxia-telangiectasia syndrome | 2021-12-07 | 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: 581217). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is present in population databases (rs776516754, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Asn1094Ilefs*15) 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). |
Ambry Genetics | RCV002442531 | SCV002611488 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-08-10 | criteria provided, single submitter | clinical testing | The c.3281delA pathogenic mutation, located in coding exon 21 of the ATM gene, results from a deletion of one nucleotide at nucleotide position 3281, causing a translational frameshift with a predicted alternate stop codon (p.N1094Ifs*15). 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. |
Baylor Genetics | RCV003460982 | SCV004216247 | likely pathogenic | Familial cancer of breast | 2020-12-25 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV003460982 | SCV004933695 | pathogenic | Familial cancer of breast | 2024-01-19 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |