ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.387dup (p.Asp130fs)

dbSNP: rs745642834
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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 RCV001021342 SCV001182948 pathogenic Hereditary cancer-predisposing syndrome 2018-08-15 criteria provided, single submitter clinical testing The c.387dupA variant, located in coding exon 4 of the ATM gene, results from a duplication of A at nucleotide position 387, causing a translational frameshift with a predicted alternate stop codon (p.D130Rfs*4). 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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