ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6661_6673del (p.Glu2221fs)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003029353 SCV003323803 pathogenic Ataxia-telangiectasia syndrome 2023-02-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu2221Leufs*10) 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: 2107981). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV004068631 SCV004933774 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.
Ambry Genetics RCV004673770 SCV005168711 pathogenic Hereditary cancer-predisposing syndrome 2024-03-21 criteria provided, single submitter clinical testing The c.6661_6673delGAGCCTATCATGG pathogenic mutation, located in coding exon 45 of the ATM gene, results from a deletion of 13 nucleotides at nucleotide positions 6661 to 6673, causing a translational frameshift with a predicted alternate stop codon (p.E2221Lfs*10). 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.

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