ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.1127_1129delAGG (rs1064794167)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482588 SCV000568044 uncertain significance not provided 2015-09-24 criteria provided, single submitter clinical testing This deletion of three nucleotides in STK11 is denoted c.1127_1129delAGG at the cDNA level and p.Glu376del (E376del) at the protein level. The normal sequence, with the bases that are deleted in braces, is GAGG[AGG]CCAG. This in frame deletion of a single Glutamic Acid residue occurs at a position that is conserved through mammals across species and is not located in a known functional domain (Hearle 2006). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. Since in frame deletions may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time and we consider STK11 Glu376del to be a variant of uncertain significance.
Ambry Genetics RCV000565927 SCV000672320 uncertain significance Hereditary cancer-predisposing syndrome 2016-07-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000685196 SCV000812669 uncertain significance Peutz-Jeghers syndrome 2018-09-03 criteria provided, single submitter clinical testing This variant, c.1127_1129delAGG, results in the deletion of 1 amino acid of the STK11 protein (p.Glu376del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with STK11-related disease. ClinVar contains an entry for this variant (Variation ID: 419878). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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