ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.615G>A (p.Ala205=) (rs532889728)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000213016 SCV000211684 benign not specified 2014-06-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000160974 SCV000213651 likely benign Hereditary cancer-predisposing syndrome 2015-03-12 criteria provided, single submitter clinical testing
Invitae RCV000229020 SCV000284870 uncertain significance Peutz-Jeghers syndrome 2018-12-24 criteria provided, single submitter clinical testing This sequence change affects codon 205 of the STK11 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the STK11 protein. This variant is present in population databases (rs532889728, ExAC 0.03%). This variant has not been reported in the literature in individuals with STK11-related disease. ClinVar contains an entry for this variant (Variation ID: 182882). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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 RCV000229020 SCV000488658 likely benign Peutz-Jeghers syndrome 2016-05-18 criteria provided, single submitter clinical testing
Color RCV000160974 SCV000691530 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-09 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759355 SCV000888641 likely benign not provided 2017-11-15 criteria provided, single submitter clinical testing

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