ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.502A>G (p.Thr168Ala)

dbSNP: rs1601823689
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001023443 SCV001185320 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-16 criteria provided, single submitter clinical testing The p.T168A variant (also known as c.502A>G), located in coding exon 3 of the CHEK2 gene, results from an A to G substitution at nucleotide position 502. The threonine at codon 168 is replaced by alanine, an amino acid with similar properties. This nucleotide position is highly conserved in available vertebrate species. 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.
Invitae RCV001320914 SCV001511722 uncertain significance Familial cancer of breast 2023-11-23 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 168 of the CHEK2 protein (p.Thr168Ala). 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: 825385). 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.
Baylor Genetics RCV001320914 SCV004217491 uncertain significance Familial cancer of breast 2023-10-20 criteria provided, single submitter clinical testing

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