ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.1265_1267delGCA (rs587782439)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131503 SCV000186492 uncertain significance Hereditary cancer-predisposing syndrome 2016-11-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000229523 SCV000284856 uncertain significance Peutz-Jeghers syndrome 2017-09-24 criteria provided, single submitter clinical testing This variant, c.1265_1267delGCA, results in the deletion of 1 amino acid residue of the STK11 protein (p.Ser422del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs764027433, ExAC 0.01%). This variant has not been reported in the literature in individuals with a STK11-related disease. ClinVar contains an entry for this variant (Variation ID: 142404). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid residue 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.
Counsyl RCV000229523 SCV000489193 uncertain significance Peutz-Jeghers syndrome 2016-08-31 criteria provided, single submitter clinical testing
GeneDx RCV000486911 SCV000570573 uncertain significance not provided 2018-12-12 criteria provided, single submitter clinical testing This in-frame deletion of 3 nucleotides in STK11 is denoted c.1265_1267delGCA at the cDNA level and p.Ser422del (S422del) at the protein level. The normal sequence, with the bases that are deleted in braces, is AGCA[GCA]AGAT. This deletion of a single Serine residue occurs at a position that is not conserved and is located in the in C-terminal region (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 Ser422del to be a variant of uncertain significance.
Color RCV000131503 SCV000686611 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-11 criteria provided, single submitter clinical testing

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