ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3532A>T (p.Lys1178Ter)

dbSNP: rs1555091359
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520761 SCV000619517 likely pathogenic not provided 2017-07-20 criteria provided, single submitter clinical testing This variant is denoted ATM c.3532A>T at the cDNA level and p.Lys1178Ter (K1178X) at the proteinlevel. The substitution creates a nonsense variant, which changes a Lysine to a premature stop codon (AAA>TAA), andis predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNAdecay. Although this variant has not, to our knowledge, been reported in the literature, it is considered likely pathogenic
Ambry Genetics RCV002456010 SCV002614067 pathogenic Hereditary cancer-predisposing syndrome 2023-08-28 criteria provided, single submitter clinical testing The p.K1178* pathogenic mutation (also known as c.3532A>T), located in coding exon 23 of the ATM gene, results from an A to T substitution at nucleotide position 3532. This changes the amino acid from a lysine to a stop codon within coding exon 23. 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 RCV003605629 SCV004499791 pathogenic Ataxia-telangiectasia syndrome 2023-02-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys1178*) 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 variant has not been reported in the literature in individuals affected with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 450892). For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV004023582 SCV004931773 pathogenic Familial cancer of breast 2024-01-22 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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