ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.194C>G (p.Thr65Arg)

gnomAD frequency: 0.00001  dbSNP: rs864622684
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204519 SCV000261782 uncertain significance Familial cancer of breast 2023-09-17 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 220879). 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 threonine, which is neutral and polar, with arginine, which is basic and polar, at codon 65 of the CHEK2 protein (p.Thr65Arg).
GeneDx RCV000520409 SCV000616676 uncertain significance not provided 2023-06-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 11733767, 22114986)
Color Diagnostics, LLC DBA Color Health RCV000777678 SCV000913605 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000777678 SCV001174340 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-16 criteria provided, single submitter clinical testing The p.T65R variant (also known as c.194C>G), located in coding exon 1 of the CHEK2 gene, results from a C to G substitution at nucleotide position 194. The threonine at codon 65 is replaced by arginine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000520409 SCV001470501 uncertain significance not provided 2020-05-22 criteria provided, single submitter clinical testing

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