ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.1367del (p.Leu456fs)

dbSNP: rs1555070832
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657487 SCV000779222 likely pathogenic not provided 2018-03-08 criteria provided, single submitter clinical testing This deletion of one nucleotide in ATM is denoted c.1367delT at the cDNA level and p.Leu456TyrfsX17 (L456YfsX17) at the protein level. The normal sequence, with the base that is deleted in brackets, is GTGT[delT]ACGA. The deletion causes a frameshift which changes a Leucine to a Tyrosine at codon 456, and creates a premature stop codon at position 17 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature as a germline variant, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Based on currently available evidence, we consider ATM c.1367delT to be a likely pathogenic variant.
Genetic Services Laboratory, University of Chicago RCV000657487 SCV002064368 pathogenic not provided 2020-06-03 criteria provided, single submitter clinical testing DNA sequence analysis of the ATM gene demonstrated a single base pair deletion in exon 10, c.1367del. This pathogenic sequence change results in an amino acid frameshift and creates a premature stop codon 16 amino acids downstream of the mutation, p.Leu456Tyrfs*17. This pathogenic sequence change is predicted to result in an abnormal transcript, which may be degraded, or may lead to the production of a truncated ATM protein with potentially abnormal function. This sequence change is absent from known population databases (gnomAD). This sequence change has not been previously described in patients with ATM-related disorders; however, other truncating variants have been described in this gene. These collective evidences indicate that this sequence change is pathogenic.
Myriad Genetics, Inc. RCV004026008 SCV004932631 pathogenic Familial cancer of breast 2024-01-16 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Natera, Inc. RCV001829818 SCV002095289 likely pathogenic Ataxia-telangiectasia syndrome 2020-07-09 no assertion criteria provided clinical testing

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