ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.5497-1G>A (rs876660245)

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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 RCV000220437 SCV000277507 likely pathogenic Hereditary cancer-predisposing syndrome 2016-09-20 criteria provided, single submitter clinical testing Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity
GeneDx RCV000254723 SCV000322555 likely pathogenic not provided 2016-04-18 criteria provided, single submitter clinical testing This variant is denoted ATM c.5497-1G>A or IVS36-1G>A and consists of a G>A nucleotide substitutionat the -1 position of intron 36 of the ATM gene. This variant destroys a canonical splice acceptor site and is predictedto cause 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.5497-1G>A to be a likely pathogenic variant.

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