ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4327G>A (p.Val1443Met) (rs141262029)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000146507 SCV000193797 uncertain significance Lissencephaly 4 2014-05-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000516410 SCV000614148 uncertain significance not specified 2017-07-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619685 SCV000739220 uncertain significance Cardiovascular phenotype 2017-02-24 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV000805937 SCV000945912 uncertain significance Aortic aneurysm, familial thoracic 4 2019-01-30 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 1450 of the MYH11 protein (p.Val1450Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs141262029, ExAC 0.01%). This variant has not been reported in the literature in individuals with MYH11-related disease. 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: "Probably Damaging"; Align-GVGD: "Class C15"). 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001092820 SCV001249514 uncertain significance not provided 2020-01-01 criteria provided, single submitter clinical testing

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