ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.449T>C (p.Val150Ala) (rs587781802)

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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 RCV000130068 SCV000184895 uncertain significance Hereditary cancer-predisposing syndrome 2016-10-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000199606 SCV000254551 uncertain significance Peutz-Jeghers syndrome 2018-11-12 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 150 of the STK11 protein (p.Val150Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine. This variant is present in population databases (rs587781802, ExAC 0.007%). This variant has not been reported in the literature in individuals with STK11-related disease. ClinVar contains an entry for this variant (Variation ID: 141508). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). 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 RCV000199606 SCV000489718 uncertain significance Peutz-Jeghers syndrome 2016-11-11 criteria provided, single submitter clinical testing
Color RCV000130068 SCV000686649 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-09 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000582047 SCV000692044 uncertain significance not specified no assertion criteria provided clinical testing

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