ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4579-5G>A (rs759760029)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000367942 SCV000395253 uncertain significance Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000396166 SCV000395254 uncertain significance Lissencephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000641587 SCV000763229 uncertain significance Aortic aneurysm, familial thoracic 4 2017-08-23 criteria provided, single submitter clinical testing This sequence change falls in intron 33 of the MYH11 gene. It does not directly change the encoded amino acid sequence of the MYH11 protein. This variant is present in population databases (rs759760029, ExAC 0.006%). This variant has not been reported in the literature in individuals with MYH11-related disease. ClinVar contains an entry for this variant (Variation ID: 318111). 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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