ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.505C>T (p.Arg169Ter) (rs778050996)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000755687 SCV000883100 likely pathogenic Aortic aneurysm, familial thoracic 7 2018-11-21 criteria provided, single submitter clinical testing
Invitae RCV000755687 SCV001215499 uncertain significance Aortic aneurysm, familial thoracic 7 2019-06-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg169*) in the MYLK gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs778050996, ExAC 0.01%). This variant has not been reported in the literature in individuals with MYLK-related conditions. This variant occurs in the long isoform of MYLK (PMID: 21055718). The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in the long isoform of MYLK cause disease. 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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