Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002313458 | SCV000739345 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2017-09-22 | criteria provided, single submitter | clinical testing | The p.P190L variant (also known as c.569C>T), located in coding exon 4 of the MYLK gene, results from a C to T substitution at nucleotide position 569. The proline at codon 190 is replaced by leucine, an amino acid with similar properties, and is located in an Ig-like domain. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV001230782 | SCV001403277 | likely benign | Aortic aneurysm, familial thoracic 7 | 2023-11-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003328609 | SCV004035475 | uncertain significance | not provided | 2023-09-11 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |