ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.1397T>A (p.Leu466Ter)

dbSNP: rs1601716482
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001011358 SCV001171667 pathogenic Hereditary cancer-predisposing syndrome 2019-08-28 criteria provided, single submitter clinical testing The p.L466* pathogenic mutation (also known as c.1397T>A), located in coding exon 12 of the CHEK2 gene, results from a T to A substitution at nucleotide position 1397. This changes the amino acid from a leucine to a stop codon within coding exon 12. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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