ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.4207C>T (p.Arg1403Cys) (rs748559781)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000466538 SCV000550024 uncertain significance Aortic aneurysm, familial thoracic 7 2016-04-07 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 1403 of the MYLK protein (p.Arg1403Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a 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. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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