The functional impact of ATM-L2307F remains ambiguous; in silico predictions suggest this variant may impact function, but it is reported by Clinvar as “likely benign” or “benign” (https://www.ncbi.nlm.nih.gov/clinvar/variation/127430/) and has not been associated with Ataxia Telangiectasia. Here, ATM is linked to ataxia telangiectasia.