ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.571C>G (p.Gln191Glu) (rs794727880)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000179990 SCV000232322 uncertain significance not provided 2014-12-03 criteria provided, single submitter clinical testing
Invitae RCV000694087 SCV000822514 uncertain significance Aortic aneurysm, familial thoracic 7 2018-04-09 criteria provided, single submitter clinical testing This sequence change replaces glutamine with glutamic acid at codon 191 of the MYLK protein (p.Gln191Glu). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MYLK-related disease. ClinVar contains an entry for this variant (Variation ID: 198605). 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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