Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001235366 | SCV001408048 | pathogenic | Ataxia-telangiectasia syndrome | 2021-02-27 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). This variant has not been reported in the literature in individuals with ATM-related conditions. This sequence change creates a premature translational stop signal (p.Tyr741*) in the ATM gene. It is expected to result in an absent or disrupted protein product. |
Ambry Genetics | RCV002430007 | SCV002727523 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-08-25 | criteria provided, single submitter | clinical testing | The p.Y741* pathogenic mutation (also known as c.2223T>G), located in coding exon 13 of the ATM gene, results from a T to G substitution at nucleotide position 2223. This changes the amino acid from a tyrosine to a stop codon within coding exon 13. 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. |