ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.5702C>T (p.Thr1901Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706411 SCV000835458 uncertain significance Aortic aneurysm, familial thoracic 7 2018-03-27 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 1901 of the MYLK protein (p.Thr1901Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs200490629, ExAC 0.04%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). 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: "Tolerated"; PolyPhen-2: "Probably damaging"; Align-GVGD: "Class C0"). 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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