ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.4459C>T (p.Arg1487Ter)

dbSNP: rs886229659
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000515772 SCV003525352 pathogenic Aortic aneurysm, familial thoracic 7 2022-01-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1487*) in the MYLK gene. 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). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with thoracic aortic aneurysm and dissection (PMID: 25907466, 28401540). ClinVar contains an entry for this variant (Variation ID: 268203). For these reasons, this variant has been classified as Pathogenic.
Cardiogenetics, Center of Medical Genetics, Antwerp, Belgium RCV000515772 SCV000328622 pathogenic Aortic aneurysm, familial thoracic 7 2016-11-03 no assertion criteria provided research

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