ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.1370G>A (p.Arg457Gln) (rs780097986)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000545001 SCV000622252 uncertain significance Ataxia-telangiectasia syndrome 2018-08-16 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 457 of the ATM protein (p.Arg457Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs780097986, ExAC 0.006%). This variant has not been reported in the literature in individuals with an ATM-related disease. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant has uncertain impact on ATM function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000566779 SCV000668101 uncertain significance Hereditary cancer-predisposing syndrome 2017-04-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Mendelics RCV000545001 SCV000838487 uncertain significance Ataxia-telangiectasia syndrome 2018-07-02 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000761803 SCV000892000 uncertain significance not provided 2018-09-30 criteria provided, single submitter clinical testing

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