ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.3832-8G>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000692869 SCV000898841 uncertain significance Aortic aneurysm, familial thoracic 7 2018-04-23 criteria provided, single submitter clinical testing MYLK NM_053025.3 exon 23 c.3832-8G>C: This variant has not been reported in the literature but is present in 4/33558 Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs202218458). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant; splice prediction tools suggest that this variant may not affect splicing. However, further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Invitae RCV000692869 SCV000820716 uncertain significance Aortic aneurysm, familial thoracic 7 2018-07-05 criteria provided, single submitter clinical testing This sequence change falls in intron 22 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 (rs202218458, ExAC 0.002%). This variant has not been reported in the literature in individuals with MYLK-related 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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