ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3961dup (p.Met1321fs)

dbSNP: rs1591646429
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001021533 SCV001183160 pathogenic Hereditary cancer-predisposing syndrome 2018-11-12 criteria provided, single submitter clinical testing The c.3961dupA pathogenic mutation, located in coding exon 25 of the ATM gene, results from a duplication of A at nucleotide position 3961, causing a translational frameshift with a predicted alternate stop codon (p.M1321Nfs*3). 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.

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