ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4225G>A (p.Glu1409Lys)

gnomAD frequency: 0.00001  dbSNP: rs760096354
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002040497 SCV002297688 uncertain significance Aortic aneurysm, familial thoracic 4 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 1416 of the MYH11 protein (p.Glu1416Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs760096354, ExAC 0.006%). This variant has not been reported in the literature in individuals affected with MYH11-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
Ambry Genetics RCV002331617 SCV002630358 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2020-12-07 criteria provided, single submitter clinical testing The p.E1409K variant (also known as c.4225G>A), located in coding exon 30 of the MYH11 gene, results from a G to A substitution at nucleotide position 4225. The glutamic acid at codon 1409 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV002331617 SCV005430555 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-08-06 criteria provided, single submitter clinical testing

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