ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.155_157del (p.Gly52del) (rs1131690917)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492735 SCV000580893 likely pathogenic Hereditary cancer-predisposing syndrome 2015-09-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Invitae RCV000693516 SCV000821387 uncertain significance Peutz-Jeghers syndrome 2018-07-04 criteria provided, single submitter clinical testing This variant, c.155_157delGGG, results in the deletion of 1 amino acid of the STK11 protein (p.Gly52del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with Peutz-Jeghers syndrome (PMID: 11389158). This variant is also known as 153del3 in the literature. ClinVar contains an entry for this variant (Variation ID: 428751). 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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