ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.4844C>T (p.Ala1615Val)

gnomAD frequency: 0.00030  dbSNP: rs202177283
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002336347 SCV002639296 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-08-12 criteria provided, single submitter clinical testing The p.A1615V variant (also known as c.4844C>T), located in coding exon 26 of the MYLK gene, results from a C to T substitution at nucleotide position 4844. The alanine at codon 1615 is replaced by valine, an amino acid with similar properties, and is located in the protein kinase domain. This amino acid position is well conserved in available vertebrate species; however, valine 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.
Invitae RCV002515047 SCV002964670 benign Aortic aneurysm, familial thoracic 7 2023-04-14 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000157376 SCV000207114 likely benign Aortic aneurysm, familial abdominal, 1 2014-05-19 no assertion criteria provided clinical testing

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