ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.1076_1096delinsTGTAAGG (p.Glu359_Ile366delinsValTer)

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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 RCV002419813 SCV002720228 pathogenic Hereditary cancer-predisposing syndrome 2020-01-06 criteria provided, single submitter clinical testing The c.1076_1096del21insTGTAAGG pathogenic mutation, located in coding exon 8 of the ATM gene, results from the deletion of 21 nucleotides and insertion of 7 nucleotides causing a translational frameshift with a predicted alternate stop codon (p.E359Vfs*2). 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. RCV003316872 SCV004019281 pathogenic Familial cancer of breast 2023-02-08 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 RCV003316872 SCV004210304 likely pathogenic Familial cancer of breast 2023-06-04 criteria provided, single submitter clinical testing

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