ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.663-2A>G (rs886041931)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000387350 SCV000330736 likely pathogenic not provided 2016-08-15 criteria provided, single submitter clinical testing This variant is denoted ATM c.663-2A>G or IVS6-2A>G and consists of an A>G nucleotide substitution at the -2 position of intron 6 of the ATM gene. This variant destroys a canonical splice acceptor site and is predicted to cause abnormal gene splicing, leading to either an abnormal message that is subject to nonsense-mediated mRNA decay 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.663-2A>G to be a likely pathogenic variant.
Counsyl RCV000669607 SCV000794378 likely pathogenic Ataxia-telangiectasia syndrome 2017-10-06 criteria provided, single submitter clinical testing

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