ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.326del (p.Asn109fs)

dbSNP: rs886041996
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000346053 SCV000330821 pathogenic not provided 2016-09-22 criteria provided, single submitter clinical testing The c.326delA variant in the STK11 gene has not been reported previously as a pathogenic variant,nor as a benign variant, to our knowledge. This deletion causes a frameshift starting with codonAsparagine 109, changes this amino acid to a Methionine residue and creates a premature Stop codonat position 20 of the new reading frame, denoted p.Asn109MetfsX20. This variant is predicted tocause loss of normal protein function either through protein truncation or nonsense-mediated mRNAdecay. Based on currently available evidence, we consider c.326delA to be pathogenic.
Invitae RCV002519067 SCV003241219 pathogenic Peutz-Jeghers syndrome 2022-10-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 280868). This variant has not been reported in the literature in individuals affected with STK11-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn109Metfs*20) 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).

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