ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.842dup (p.Leu282fs) (rs121913321)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000474843 SCV000541102 pathogenic Peutz-Jeghers syndrome 2017-11-15 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 6 of the STK11 mRNA (c.842dupC), causing a frameshift at codon 282. This creates a premature translational stop signal (p.Leu282Alafs*3) and is expected to result in an absent or disrupted protein product. Truncating variants in STK11 are known to be pathogenic. This particular truncation has been reported in the literature in two families and in two unrelated individuals affected with Peutz-Jeghers syndrome  (PMID: 9760200, 16287113). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000492505 SCV000580906 pathogenic Hereditary cancer-predisposing syndrome 2013-08-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

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