Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000477311 | SCV000550011 | uncertain significance | Aortic aneurysm, familial thoracic 7 | 2023-11-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln301*) in the MYLK gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1614 amino acid(s) of the MYLK protein. This variant is present in population databases (rs545515041, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with MYLK-related conditions. ClinVar contains an entry for this variant (Variation ID: 409684). 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. |
| Ambry Genetics | RCV002374786 | SCV002686607 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2021-09-17 | criteria provided, single submitter | clinical testing | The p.Q301* variant (also known as c.901C>T), located in coding exon 7 of the MYLK gene, results from a C to T substitution at nucleotide position 901. This changes the amino acid from a glutamine to a stop codon within coding exon 7. This alteration is expected to result in premature protein truncation or nonsense-mediated mRNA decay. However, loss of function of MYLK has not been clearly established as a mechanism of disease. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Equipe Genetique des Anomalies du Developpement, |
RCV000477311 | SCV003920931 | likely pathogenic | Aortic aneurysm, familial thoracic 7 | 2023-03-27 | criteria provided, single submitter | clinical testing |