ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.7566A>T (p.Gln2522His) (rs775621333)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000563607 SCV000660675 uncertain significance Hereditary cancer-predisposing syndrome 2016-09-08 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
Invitae RCV000537750 SCV000622759 uncertain significance Ataxia-telangiectasia syndrome 2018-10-20 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 2522 of the ATM protein (p.Gln2522His). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and histidine. 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 missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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