ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.2060C>G (p.Pro687Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000689177 SCV000816817 uncertain significance Aortic aneurysm, familial thoracic 7 2018-06-22 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 687 of the MYLK protein (p.Pro687Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). 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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