ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.4289-6C>A (rs200774169)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599700 SCV000719343 likely benign not specified 2017-05-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000806777 SCV000946794 uncertain significance Aortic aneurysm, familial thoracic 7 2018-07-30 criteria provided, single submitter clinical testing This sequence change falls in intron 24 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 (rs200774169, ExAC 0.01%). This variant has not been reported in the literature in individuals with MYLK-related disease. ClinVar contains an entry for this variant (Variation ID: 509525). 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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