ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.7996A>C (p.Thr2666Pro) (rs745775382)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000627979 SCV000748866 uncertain significance Ataxia-telangiectasia syndrome 2017-11-22 criteria provided, single submitter clinical testing This sequence change replaces threonine with proline at codon 2666 of the ATM protein (p.Thr2666Pro). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and proline. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ATM-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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