ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.4292C>T (p.Pro1431Leu) (rs746690413)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER_CC_NCGL; University of Washington Medical Center RCV000210887 SCV000264607 uncertain significance Aortic aneurysm, familial thoracic 7 2015-12-01 criteria provided, single submitter research
Invitae RCV000210887 SCV000650552 uncertain significance Aortic aneurysm, familial thoracic 7 2017-08-16 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 1431 of the MYLK protein (p.Pro1431Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs746690413, ExAC 0.02%). This variant has not been reported in the literature in individuals with MYLK-related disease. ClinVar contains an entry for this variant (Variation ID: 225287). 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 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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