ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8376del (p.Arg2792fs)

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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 RCV003188107 SCV003868826 pathogenic Hereditary cancer-predisposing syndrome 2023-02-15 criteria provided, single submitter clinical testing The c.8376delG pathogenic mutation, located in coding exon 56 of the ATM gene, results from a deletion of one nucleotide at nucleotide position 8376, causing a translational frameshift with a predicted alternate stop codon (p.R2792Sfs*14). 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.
Baylor Genetics RCV003466036 SCV004212216 likely pathogenic Familial cancer of breast 2022-09-09 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003466036 SCV004930775 pathogenic Familial cancer of breast 2024-02-02 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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