ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.423-8C>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000820025 SCV000960717 uncertain significance Aortic aneurysm, familial thoracic 7 2018-12-20 criteria provided, single submitter clinical testing This sequence change falls in intron 6 of the MYLK gene. It does not directly change the encoded amino acid sequence of the MYLK protein. This variant is present in population databases (rs751696363, ExAC 0.04%). This variant has not been reported in the literature in individuals with MYLK-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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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