ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.937G>A (p.Val313Met) (rs752302543)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000466569 SCV000550502 uncertain significance Familial cancer of breast 2019-06-18 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 313 of the CHEK2 protein (p.Val313Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs752302543, ExAC 0.04%). This variant has been observed in individuals affected with breast and/or ovarian cancer (PMID: 29470806). ClinVar contains an entry for this variant (Variation ID: 410041). 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 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.
Color RCV000582321 SCV000689749 uncertain significance Hereditary cancer-predisposing syndrome 2019-12-13 criteria provided, single submitter clinical testing
Counsyl RCV000466569 SCV000785787 uncertain significance Familial cancer of breast 2017-11-30 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765619 SCV000896944 uncertain significance Familial cancer of breast; Li-Fraumeni syndrome 2; Osteosarcoma; Malignant tumor of prostate 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000582321 SCV001180558 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-29 criteria provided, single submitter clinical testing Insufficient evidence

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