ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.3868G>A (p.Glu1290Lys) (rs145953933)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619227 SCV000739263 benign Cardiovascular phenotype 2016-06-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000648736 SCV000770557 uncertain significance Aortic aneurysm, familial thoracic 7 2017-12-12 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 1290 of the MYLK protein (p.Glu1290Lys). 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 (rs145953933, ExAC 0.03%). This variant has not been reported in the literature in individuals with MYLK-related disease. 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, but 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.

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