ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.1045_1052del (p.Met349fs)

dbSNP: rs1565375817
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000706599 SCV000835659 pathogenic Ataxia-telangiectasia syndrome 2023-08-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met349Tyrfs*7) 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). For these reasons, this variant has been classified as Pathogenic. RNA analysis performed to evaluate the impact of this premature translational stop signal on mRNA splicing indicates it does not significantly alter splicing (Invitae). ClinVar contains an entry for this variant (Variation ID: 582508). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is not present in population databases (gnomAD no frequency).
Ambry Genetics RCV002397485 SCV002704356 pathogenic Hereditary cancer-predisposing syndrome 2024-03-12 criteria provided, single submitter clinical testing The c.1045_1052delATGGCAGA pathogenic mutation, located in coding exon 7 of the ATM gene, results from a deletion of 8 nucleotides at nucleotide positions 1045 to 1052, causing a translational frameshift with a predicted alternate stop codon (p.M349Yfs*7). 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.
Myriad Genetics, Inc. RCV003336157 SCV004044166 pathogenic Familial cancer of breast 2023-05-24 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Baylor Genetics RCV003336157 SCV004216224 likely pathogenic Familial cancer of breast 2021-07-23 criteria provided, single submitter clinical testing

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