Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
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, |
RCV000515772 | SCV000328622 | pathogenic | Aortic aneurysm, familial thoracic 7 | 2016-11-03 | no assertion criteria provided | research |