Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000219456 | SCV000277641 | pathogenic | Hereditary cancer-predisposing syndrome | 2015-08-03 | criteria provided, single submitter | clinical testing | The c.642delC pathogenic mutation, located in coding exon 5 of the ATM gene, results from a deletion of one nucleotide at nucleotide position 642, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). |
Invitae | RCV002519729 | SCV003235685 | pathogenic | Ataxia-telangiectasia syndrome | 2022-12-05 | 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: 233295). 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.Lys215Argfs*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). |
Myriad Genetics, |
RCV004020684 | SCV004931559 | pathogenic | Familial cancer of breast | 2024-01-09 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |