Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Mendelics | RCV000988677 | SCV001138491 | pathogenic | Ataxia-telangiectasia syndrome | 2019-05-28 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV001020302 | SCV001181759 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-02-13 | criteria provided, single submitter | clinical testing | The c.3435delT pathogenic mutation, located in coding exon 23 of the ATM gene, results from a deletion of one nucleotide at nucleotide position 3435, causing a translational frameshift with a predicted alternate stop codon (p.D1145Efs*11). 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. |
| Fulgent Genetics, |
RCV002497280 | SCV002809259 | likely pathogenic | Familial cancer of breast; Ataxia-telangiectasia syndrome | 2021-10-27 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000988677 | SCV004507556 | pathogenic | Ataxia-telangiectasia syndrome | 2021-07-29 | 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: 802750). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asp1145Glufs*11) 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). |