ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.736G>A (p.Val246Ile)

dbSNP: rs748504161
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000792542 SCV000931846 uncertain significance Familial cancer of breast 2023-09-11 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 246 of the CHEK2 protein (p.Val246Ile). This variant is not present in population databases (gnomAD no frequency). 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: 639682). 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.
Ambry Genetics RCV002386379 SCV002675021 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-25 criteria provided, single submitter clinical testing The p.V246I variant (also known as c.736G>A), located in coding exon 5 of the CHEK2 gene, results from a G to A substitution at nucleotide position 736. The valine at codon 246 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity Omics RCV003144589 SCV003832006 uncertain significance not provided 2021-03-12 criteria provided, single submitter clinical testing

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