Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000411122 | SCV000486620 | likely pathogenic | Ataxia-telangiectasia syndrome | 2016-07-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000411122 | SCV000748917 | pathogenic | Ataxia-telangiectasia syndrome | 2023-09-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys2589Asnfs*17) 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 premature translational stop signal has been observed in individual(s) with prostate cancer (PMID: 27433846). ClinVar contains an entry for this variant (Variation ID: 371123). For these reasons, this variant has been classified as Pathogenic. |
Ambry Genetics | RCV002411274 | SCV002672202 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-10-27 | criteria provided, single submitter | clinical testing | The c.7767delA pathogenic mutation, located in coding exon 51 of the ATM gene, results from a deletion of one nucleotide at position 7767 causing a translational frameshift with a predicted alternate stop codon (p.K2589fs*17). This mutation has been reported in a homozygous state in a 14 year-old Colombian patient with classic ataxia-telangiectasia syndrome (Ruiz-Botero F et al. Rev Chil Pediatr, 2017;88:524-528). In addition to the clinical data presented in the literature, 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. |
Myriad Genetics, |
RCV004022143 | SCV004933533 | pathogenic | Familial cancer of breast | 2024-01-31 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
Natera, |
RCV000411122 | SCV001462592 | pathogenic | Ataxia-telangiectasia syndrome | 2020-09-16 | no assertion criteria provided | clinical testing |