Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000476921 | SCV000550034 | uncertain significance | Aortic aneurysm, familial thoracic 7 | 2016-09-04 | criteria provided, single submitter | clinical testing | In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a MYLK-related disease. This sequence change replaces aspartic acid with asparagine at codon 100 of the MYLK protein (p.Asp100Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. |
Ambry Genetics | RCV002436436 | SCV002746905 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2018-05-01 | criteria provided, single submitter | clinical testing | The p.D100N variant (also known as c.298G>A), located in coding exon 2 of the MYLK gene, results from a G to A substitution at nucleotide position 298. The aspartic acid at codon 100 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is highly 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. |