ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.1078G>A (p.Glu360Lys) (rs876658337)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000220180 SCV000273428 uncertain significance Hereditary cancer-predisposing syndrome 2016-05-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000220180 SCV000684556 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-02 criteria provided, single submitter clinical testing
Counsyl RCV000233648 SCV000785314 uncertain significance Familial cancer of breast 2017-07-05 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764378 SCV000895413 uncertain significance Familial cancer of breast; Li-Fraumeni syndrome 2; Osteosarcoma; Malignant tumor of prostate 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000233648 SCV000289643 uncertain significance Familial cancer of breast 2018-11-28 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 360 of the CHEK2 protein (p.Glu360Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CHEK2-related disease. ClinVar contains an entry for this variant (Variation ID: 230025). 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: "Benign"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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