ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.1068C>G (p.Ile356Met)

dbSNP: rs187744790
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132217 SCV000187299 benign Hereditary cancer-predisposing syndrome 2024-02-13 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001043772 SCV001207534 likely benign Peutz-Jeghers syndrome 2023-12-12 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000132217 SCV001351981 uncertain significance Hereditary cancer-predisposing syndrome 2020-12-23 criteria provided, single submitter clinical testing This missense variant replaces isoleucine with methionine at codon 356 of the STK11 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with breast or ovarian cancer (PMID: 32068069). This variant has been identified in 2/245160 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Genome-Nilou Lab RCV001043772 SCV002057915 uncertain significance Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing

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