ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.2740G>A (p.Asp914Asn) (rs561148360)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769332 SCV000900710 uncertain significance Thoracic aortic aneurysm and aortic dissection 2016-07-25 criteria provided, single submitter clinical testing
Invitae RCV000544003 SCV000650534 uncertain significance Aortic aneurysm, familial thoracic 7 2017-07-25 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 914 of the MYLK protein (p.Asp914Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs561148360, ExAC 0.006%). 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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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