ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7013_7014del (p.Leu2338fs)

dbSNP: rs1591142418
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001025928 SCV001188210 pathogenic Hereditary cancer-predisposing syndrome 2024-04-29 criteria provided, single submitter clinical testing The c.7013_7014delTG pathogenic mutation, located in coding exon 47 of the ATM gene, results from a deletion of two nucleotides at nucleotide positions 7013 to 7014, causing a translational frameshift with a predicted alternate stop codon (p.L2338Qfs*34). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). As such, this alteration is interpreted as a disease-causing mutation.
Labcorp Genetics (formerly Invitae), Labcorp RCV002551943 SCV003354345 pathogenic Ataxia-telangiectasia syndrome 2023-04-03 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: 826776). 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). This sequence change creates a premature translational stop signal (p.Leu2338Glnfs*34) 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).
Baylor Genetics RCV003473603 SCV004212273 likely pathogenic Familial cancer of breast 2022-05-05 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003473603 SCV004932576 pathogenic Familial cancer of breast 2024-01-30 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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