ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.2466+4A>G (rs563482577)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000476509 SCV000546936 uncertain significance Ataxia-telangiectasia syndrome 2016-04-18 criteria provided, single submitter clinical testing This sequence change falls in intron 16 of the ATM mRNA. It does not directly change the encoded amino acid sequence of the ATM protein. This variant is present in population databases (rs563482577, ExAC 0.009%) but has not been reported in the literature in individuals with a ATM-related disease. Algorithms developed to predict the effect of nucleotide changes on mRNA splicing suggest that this intronic variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare intronic change with uncertain impact on splicing and protein function. It has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000571688 SCV000664790 uncertain significance Hereditary cancer-predisposing syndrome 2017-07-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species

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