ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.727del (p.Val243fs)

dbSNP: rs1555738475
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
National Molecular Genetics Centre of Cancer Research, N.N. Alexandrov National Cancer Centre of Belarus RCV000515491 SCV000611550 pathogenic Peutz-Jeghers syndrome 2017-08-07 criteria provided, single submitter clinical testing Emory Genetics Laboratory Classification Definitions Pathogenic: a. Variants predicted to result in the loss of protein function in a gene for which this is a known mechanism of disease (may or may not have been previously reported in patients with disease) 1. frameshift (an insertion or deletion that is not a multiple of 3 nucleotides).
Invitae RCV000515491 SCV000953376 pathogenic Peutz-Jeghers syndrome 2018-12-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with STK11-related conditions. ClinVar contains an entry for this variant (Variation ID: 446257). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in STK11 are known to be pathogenic (PMID: 15188174, 16287113). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val243Serfs*44) in the STK11 gene. It is expected to result in an absent or disrupted protein product.
Genome-Nilou Lab RCV000515491 SCV002057376 pathogenic Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing

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