ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.362T>A (p.Leu121Ter)

dbSNP: rs771342315
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000570543 SCV000667973 pathogenic Hereditary cancer-predisposing syndrome 2019-02-14 criteria provided, single submitter clinical testing The p.L121* pathogenic mutation (also known as c.362T>A), located in coding exon 4 of the ATM gene, results from a T to A substitution at nucleotide position 362. This changes the amino acid from a leucine to a stop codon within coding exon 4. This mutation has been identified in conjunction with another pathogenic ATM mutation in multiple patients diagnosed with ataxia-telangiectasia (Birrell GW et al. Hum. Mutat., 2005 Jun;25:593; Demuth I et al. Neurogenetics, 2011 Nov;12:273-82). 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.
Invitae RCV001858239 SCV002152142 pathogenic Ataxia-telangiectasia syndrome 2022-10-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 482626). This premature translational stop signal has been observed in individual(s) with ataxia-telangiectasia and pancreatic adenocarcinoma (PMID: 15880721, 21965147, 29625052). This variant is present in population databases (rs771342315, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Leu121*) 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).
Myriad Genetics, Inc. RCV004024497 SCV004931602 pathogenic Familial cancer of breast 2024-01-09 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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