Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002313435 | SCV000739308 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2016-09-28 | criteria provided, single submitter | clinical testing | The p.Q1018* variant (also known as c.3052C>T), located in coding exon 15 of the MYLK gene, results from a C to T substitution at nucleotide position 3052. This changes the amino acid from a glutamine to a stop codon within coding exon 15. This variant was previously reported in the SNPDatabase as rs377568543. Based on data from the NHLBI Exome Sequencing Project (ESP), the T allele has an overall frequency of approximately 0.01% (1/13006) total alleles studied and 0.01% (1/8600) European American alleles. This deleted position is poorly conserved in available vertebrate species. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. However, loss of function in MYLK has not been clearly established as a mechanism of disease. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |