ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.7942C>A (p.Pro2648Thr) (rs878853547)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227613 SCV000283067 uncertain significance Ataxia-telangiectasia syndrome 2015-11-26 criteria provided, single submitter clinical testing This sequence change replaces proline with threonine at codon 2648 of the ATM protein (p.Pro2648Thr). The proline residue is moderately conserved and there is a small physicochemical difference between proline and threonine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Mendelics RCV000227613 SCV000838604 uncertain significance Ataxia-telangiectasia syndrome 2018-07-02 criteria provided, single submitter clinical testing

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