ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.920+1del

dbSNP: rs1599928360
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000813551 SCV000953915 pathogenic Peutz-Jeghers syndrome 2020-10-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in STK11 are known to be pathogenic (PMID: 15188174, 16287113). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with clinical features of Peutz-Jeghers syndrome (PMID: 12372054, Invitae). ClinVar contains an entry for this variant (Variation ID: 657009). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 7 of the STK11 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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