ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.284G>C (p.Arg95Pro)

dbSNP: rs750596499
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506957 SCV000601164 uncertain significance not specified 2017-07-10 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000581294 SCV000689677 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000581294 SCV001177754 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-19 criteria provided, single submitter clinical testing The p.R95P variant (also known as c.284G>C), located in coding exon 1 of the CHEK2 gene, results from a G to C substitution at nucleotide position 284. The arginine at codon 95 is replaced by proline, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001068757 SCV001233889 uncertain significance Familial cancer of breast 2023-10-04 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 95 of the CHEK2 protein (p.Arg95Pro). This variant is present in population databases (rs750596499, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with CHEK2-related conditions. ClinVar contains an entry for this variant (Variation ID: 439091). 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. 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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