ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.735-1G>A (rs1057517830)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413399 SCV000490835 pathogenic not provided 2015-08-12 criteria provided, single submitter clinical testing The c.735-1 G>A splice site variant in the STK11 gene has been previously reported in association with Peutz-Jeghers syndrome (de Leng et al., 2007; Korsse et al., 2013; Hearle et al., 2006; Olschwang et al., 2001). This variant destroys the canonical splice acceptor site in intron 5, and is expected to cause abnormal gene splicing. In addition, the c.735 G>A splice site variant was not observed in approximately 6,300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, we interpret this variant to be pathogenic.
Ambry Genetics RCV000492178 SCV000580908 pathogenic Hereditary cancer-predisposing syndrome 2013-01-14 criteria provided, single submitter clinical testing

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