ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.902T>G (p.Leu301Trp)

dbSNP: rs886039739
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000582644 SCV000689741 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-20 criteria provided, single submitter clinical testing
GeneKor MSA RCV000582644 SCV000822004 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Invitae RCV001853918 SCV002206812 uncertain significance Familial cancer of breast 2022-10-09 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CHEK2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with tryptophan, which is neutral and slightly polar, at codon 301 of the CHEK2 protein (p.Leu301Trp). ClinVar contains an entry for this variant (Variation ID: 491654). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0").

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