ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.3832-2A>G

dbSNP: rs2059661877
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001236095 SCV001408807 likely pathogenic Aortic aneurysm, familial thoracic 7 2019-07-22 criteria provided, single submitter clinical testing This variant occurs within the aortic-specific isoform of MYLK. Loss-of-function variants in the aortic-specific isoform of MYLK are known to be pathogenic for thoracic aortic dissections (PMID: 21055718). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant has not been reported in the literature in individuals with MYLK-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 22 of the MYLK gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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