ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.3502T>C (p.Cys1168Arg) (rs749933079)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000219437 SCV000274607 uncertain significance Hereditary cancer-predisposing syndrome 2016-10-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Insufficient evidence
Color RCV000219437 SCV000913924 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-20 criteria provided, single submitter clinical testing
Invitae RCV000550846 SCV000622427 uncertain significance Ataxia-telangiectasia syndrome 2017-03-23 criteria provided, single submitter clinical testing This sequence change replaces cysteine with arginine at codon 1168 of the ATM protein (p.Cys1168Arg). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and arginine. This variant is present in population databases (rs749933079, ExAC 0.02%) but has not been reported in the literature in individuals with an ATM-related disease. ClinVar contains an entry for this variant (Variation ID: 230914). 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. In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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