ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.1066-2A>T (rs1555069514)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000777178 SCV000912869 likely pathogenic Hereditary cancer-predisposing syndrome 2018-09-04 criteria provided, single submitter clinical testing
GeneDx RCV000523800 SCV000619247 likely pathogenic not provided 2017-07-13 criteria provided, single submitter clinical testing This variant is denoted ATM c.1066-2A>T or IVS8-2A>T and consists of an A>T nucleotide substitutionat the -2 position of intron 8 of the ATM gene. This variant destroys a canonical splice acceptor site and is predicted tocause abnormal gene splicing, leading to either an abnormal message that is subject to nonsense-mediated mRNAdecay or to an abnormal protein product. This variant has not, to our knowledge, been published in the literature.Based on the currently available information, we consider ATM c.1066-2A>T to be a likely pathogenic variant

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