ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.4451del (p.Met1484fs) (rs1555099760)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000565901 SCV000665639 pathogenic Hereditary cancer-predisposing syndrome 2017-01-30 criteria provided, single submitter clinical testing The c.4451delT pathogenic mutation, located in coding exon 29 of the ATM gene, results from a deletion of one nucleotide at nucleotide position 4451, causing a translational frameshift with a predicted alternate stop codon (p.M1484Rfs*15). 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.
Counsyl RCV000671705 SCV000796707 likely pathogenic Ataxia-telangiectasia syndrome 2017-12-28 criteria provided, single submitter clinical testing

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