Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001022315 | SCV001184034 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-02-28 | criteria provided, single submitter | clinical testing | The c.4339_4342delAGTT pathogenic mutation, located in coding exon 28 of the ATM gene, results from a deletion of 4 nucleotides at nucleotide positions 4339 to 4342, causing a translational frameshift with a predicted alternate stop codon (p.S1447Yfs*3). 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 | RCV001862210 | SCV002123732 | pathogenic | Ataxia-telangiectasia syndrome | 2023-08-05 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser1447Tyrfs*3) 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: 824803). For these reasons, this variant has been classified as Pathogenic. |
Laboratory for Genotyping Development, |
RCV003160180 | SCV002758396 | pathogenic | Gastric cancer | 2021-07-01 | no assertion criteria provided | research |