ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.3052C>T (p.Gln1018Ter)

gnomAD frequency: 0.00001  dbSNP: rs377568543
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Total submissions: 1
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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.

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