Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000129960 | SCV000184784 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-02-28 | criteria provided, single submitter | clinical testing | The c.4938delA pathogenic mutation, located in coding exon 32 of the ATM gene, results from a deletion of one nucleotide at nucleotide position 4938, causing a translational frameshift with a predicted alternate stop codon (p.K1646Nfs*2). 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 |
RCV000627968 | SCV000748855 | pathogenic | Ataxia-telangiectasia syndrome | 2021-12-17 | 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: 141446). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys1646Asnfs*2) 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). |
| Baylor Genetics | RCV003467126 | SCV004210083 | likely pathogenic | Familial cancer of breast | 2023-08-04 | criteria provided, single submitter | clinical testing | |
| Color Diagnostics, |
RCV000129960 | SCV004361004 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-09-12 | criteria provided, single submitter | clinical testing | This variant deletes 1 nucleotide in exon 33 of the ATM gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of ATM function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. |
| Myriad Genetics, |
RCV003467126 | SCV004932561 | pathogenic | Familial cancer of breast | 2024-01-25 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |