Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001071723 | SCV001237041 | pathogenic | Ataxia-telangiectasia syndrome | 2023-10-24 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu2176Profs*57) 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: 864515). For these reasons, this variant has been classified as Pathogenic. |
Ambry Genetics | RCV002365787 | SCV002659327 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-07-28 | criteria provided, single submitter | clinical testing | The c.6526_6532delTTGCAGG pathogenic mutation, located in coding exon 44 of the ATM gene, results from a deletion of 7 nucleotides at nucleotide positions 6526 to 6532, causing a translational frameshift with a predicted alternate stop codon (p.L2176Pfs*57). 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. |