ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.7308-10T>C (rs745319720)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000581610 SCV000687765 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-05 criteria provided, single submitter clinical testing
GeneDx RCV000601074 SCV000713877 likely benign not specified 2017-03-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000456330 SCV000547005 uncertain significance Ataxia-telangiectasia syndrome 2018-12-11 criteria provided, single submitter clinical testing This sequence change falls in intron 49 of the ATM mRNA. 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.

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