ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4637C>T (p.Thr1546Met) (rs753685135)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000791960 SCV000931231 uncertain significance Aortic aneurysm, familial thoracic 4 2018-12-11 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 1553 of the MYH11 protein (p.Thr1553Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs753685135, ExAC 0.01%). This variant has not been reported in the literature in individuals with MYH11-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV001092819 SCV001249513 uncertain significance not provided 2020-01-01 criteria provided, single submitter clinical testing
Color RCV001177087 SCV001341220 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-05-24 criteria provided, single submitter clinical testing

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