Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002313436 | SCV000739309 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2016-10-07 | criteria provided, single submitter | clinical testing | The p.D764G variant (also known as c.2291A>G), located in coding exon 13 of the MYLK gene, results from an A to G substitution at nucleotide position 2291. The aspartic acid at codon 764 is replaced by glycine, an amino acid with similar properties. Based on data from ExAC, the G allele has an overall frequency less than 0.01% (1/106190). This amino acid position is not well conserved in available vertebrate species, and glycine is the reference amino acid in other 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. |
Gene |
RCV002274071 | SCV002559281 | uncertain significance | not provided | 2022-08-05 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function |