ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.1010_1011del (p.Val337fs)

dbSNP: rs2145430970
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics, Hue University of Medicine and Pharmacy RCV001391230 SCV001593156 pathogenic Peutz-Jeghers syndrome 2021-03-27 criteria provided, single submitter clinical testing
Invitae RCV001391230 SCV004297974 pathogenic Peutz-Jeghers syndrome 2024-01-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val337Glyfs*22) in the STK11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in STK11 are known to be pathogenic (PMID: 15188174, 16287113). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with Peutz-Jeghers syndrome (PMID: 19727776, 23718779, 26979979, 32462036). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV004037711 SCV005035476 pathogenic Hereditary cancer-predisposing syndrome 2024-02-07 criteria provided, single submitter clinical testing The c.1010_1011delTG pathogenic mutation, located in coding exon 8 of the STK11 gene, results from a deletion of two nucleotides at nucleotide positions 1010 to 1011, causing a translational frameshift with a predicted alternate stop codon (p.V337Gfs*22). This alteration has been identified in a sporadic as well as a familial case of Peutz-Jeghers syndrome (PJS) (Salloch H et al. Int J Colorectal Dis, 2010 Jan;25:97-107; Borun P et al. BMC Med. Genet., 2013 May;14:58). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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