Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000809937 | SCV000950120 | uncertain significance | Aortic aneurysm, familial thoracic 7 | 2020-08-20 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with MYLK-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with serine at codon 88 of the MYLK protein (p.Thr88Ser). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and serine. |
| Fulgent Genetics, |
RCV002495115 | SCV002797715 | uncertain significance | Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | 2021-08-21 | criteria provided, single submitter | clinical testing | |
| CHEO Genetics Diagnostic Laboratory, |
RCV003150351 | SCV003837882 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-03-29 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV003150351 | SCV004001624 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-06-14 | criteria provided, single submitter | clinical testing | The p.T88S variant (also known as c.263C>G), located in coding exon 2 of the MYLK gene, results from a C to G substitution at nucleotide position 263. The threonine at codon 88 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. 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. |