ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5176G>A (p.Ala1726Thr) (rs376154041)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000698929 SCV000827620 uncertain significance Aortic aneurysm, familial thoracic 4 2019-11-19 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 1733 of the MYH11 protein (p.Ala1733Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs376154041, ExAC 0.04%). This variant has not been reported in the literature in individuals with MYH11-related disease. ClinVar contains an entry for this variant (Variation ID: 375862). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 RCV000762208 SCV000892482 uncertain significance not provided 2018-08-01 criteria provided, single submitter clinical testing
Color RCV001188909 SCV001356086 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-11-16 criteria provided, single submitter clinical testing
CSER _CC_NCGL, University of Washington RCV000417300 SCV000503547 uncertain significance Familial thoracic aortic aneurysm 2016-08-01 no assertion criteria provided research Found in patient having exome sequencing for an unrelated indication. No known history of thoracic aortic aneurysm(s).

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