ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.4910-5T>C (rs1309478967)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552366 SCV000622543 uncertain significance Ataxia-telangiectasia syndrome 2017-03-31 criteria provided, single submitter clinical testing This sequence change falls in intron 32 of the ATM gene. It does not directly change the encoded amino acid sequence of the ATM protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an ATM-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a novel intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000567462 SCV000665605 uncertain significance Hereditary cancer-predisposing syndrome 2016-10-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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