Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001025236 | SCV001187389 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-09-06 | criteria provided, single submitter | clinical testing | The c.640dupT pathogenic mutation, located in coding exon 5 of the ATM gene, results from a duplication of T at nucleotide position 640, causing a translational frameshift with a predicted alternate stop codon (p.S214Ffs*40). 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 | RCV001383263 | SCV001582351 | pathogenic | Ataxia-telangiectasia syndrome | 2023-11-02 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser214Phefs*40) 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: 826388). For these reasons, this variant has been classified as Pathogenic. |
| Baylor Genetics | RCV003467685 | SCV004212135 | pathogenic | Familial cancer of breast | 2022-12-31 | criteria provided, single submitter | clinical testing |