ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.897T>G (p.Ile299Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002376259 SCV002684017 uncertain significance Hereditary cancer-predisposing syndrome 2022-04-08 criteria provided, single submitter clinical testing The p.I299M variant (also known as c.897T>G), located in coding exon 7 of the CHEK2 gene, results from a T to G substitution at nucleotide position 897. The isoleucine at codon 299 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is conserved. 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.
Baylor Genetics RCV003471368 SCV004217685 uncertain significance Familial cancer of breast 2023-05-05 criteria provided, single submitter clinical testing

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