ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4748G>A (p.Arg1583Gln) (rs775908168)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000531179 SCV000641053 uncertain significance Aortic aneurysm, familial thoracic 4 2017-04-11 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 1590 of the MYH11 protein (p.Arg1590Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs775908168, ExAC 0.02%). This variant has been reported in two related individuals affected with thoracic aortic aneurysm (PMID: 23099432). 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 C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. It has been reported in both the population and affected individuals, but the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000996217 SCV001150818 uncertain significance not provided 2018-05-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000531179 SCV001158472 uncertain significance Aortic aneurysm, familial thoracic 4 2019-06-21 criteria provided, single submitter clinical testing

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