ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5336C>A (p.Thr1779Lys) (rs201960644)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000461626 SCV000543711 uncertain significance Aortic aneurysm, familial thoracic 4 2016-09-02 criteria provided, single submitter clinical testing This sequence change replaces threonine with lysine at codon 1786 of the MYH11 protein (p.Thr1786Lys). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and lysine. This variant is present in population databases (rs201960644, ExAC 0.006%) but has not been reported in the literature in individuals with a 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: "Benign"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506086 SCV000604342 uncertain significance not specified 2016-10-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617291 SCV000739173 uncertain significance Cardiovascular phenotype 2017-12-18 criteria provided, single submitter clinical testing Insufficient evidence;In silico models in agreement (benign)

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