ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.125G>T (p.Arg42Leu) (rs148830698)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000766867 SCV000541143 likely benign not provided 2019-02-15 criteria provided, single submitter clinical testing
GeneDx RCV000766867 SCV000565597 uncertain significance not provided 2014-12-23 criteria provided, single submitter clinical testing This variant is denoted STK11 c.125G>T at the cDNA level, p.Arg42Leu (R42L) at the protein level, and results in the change of an Arginine to a Leucine (CGG>CTG). This variant was observed in at least one patient with lung cancer (Onozato 2007). STK11 Arg42Leu was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Since Arginine and Leucine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. STK11 Arg42Leu occurs at a position that is moderately conserved through vertebrates and is located in N-terminal domain (Hearle 2006). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available information, it is unclear whether STK11 Arg42Leu is pathogenic or benign. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV000566963 SCV000664357 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000566963 SCV000686609 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000483419 SCV000731495 uncertain significance not specified 2017-03-20 criteria provided, single submitter clinical testing The p.Arg42Leu variant in STK11 has not been previously reported in the literatu re in individuals with Peutz-Jeghers syndrome, but has been reported in ClinVar (Variation ID 403781). This variant has also has been identified in 6/8552 of Ea st Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs148830698). Computational prediction tools and conservat ion analysis do not provide strong support for or against an impact to the prote in. In summary, the clinical significance of the p.Arg42Leu variant is uncertain .
Counsyl RCV000460664 SCV000786581 uncertain significance Peutz-Jeghers syndrome 2018-05-29 criteria provided, single submitter clinical testing

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