Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000866251 | SCV000722057 | likely benign | not provided | 2021-04-23 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 25944730, 26133393) |
Ambry Genetics | RCV002315916 | SCV000739319 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2017-03-14 | criteria provided, single submitter | clinical testing | The p.R705C variant (also known as c.2113C>T), located in coding exon 12 of the MYLK gene, results from a C to T substitution at nucleotide position 2113. The arginine at codon 705 is replaced by cysteine, an amino acid with highly dissimilar properties. This alteration has been identified in two cohorts of patients with suspected aortopathy; however, clinical details are limited (Wooderchak-Donahue W et al. Am. J. Med. Genet. A, 2015 Aug;167A:1747-57; Zarate YA et al. Genet. Med., 2016 Apr;18:356-63). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV001860297 | SCV002244739 | likely benign | Aortic aneurysm, familial thoracic 7 | 2023-11-17 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003330826 | SCV004039018 | likely benign | not specified | 2023-08-10 | criteria provided, single submitter | clinical testing |