ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8806G>C (p.Glu2936Gln) (rs1060501537)

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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 RCV000570991 SCV000665454 uncertain significance Hereditary cancer-predisposing syndrome 2017-12-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000458489 SCV000546676 uncertain significance Ataxia-telangiectasia syndrome 2016-12-27 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glutamine at codon 2936 of the ATM protein (p.Glu2936Gln). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and glutamine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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