ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.151C>T (p.Gln51Ter) (rs587781592)

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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 RCV000129647 SCV000184443 pathogenic Hereditary cancer-predisposing syndrome 2013-10-28 criteria provided, single submitter clinical testing
Invitae RCV000195906 SCV000253899 pathogenic Familial cancer of breast 2015-05-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 51 (p.Gln51*). It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in CHEK2 are known to be pathogenic (PMID: 21876083, 24713400). For these reasons, this variant has been classified as Pathogenic.

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