ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.2125G>A (p.Val709Met)

gnomAD frequency: 0.00029  dbSNP: rs112537316
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001087472 SCV000650521 likely benign Aortic aneurysm, familial thoracic 7 2024-01-10 criteria provided, single submitter clinical testing
GeneDx RCV000757531 SCV000719416 likely benign not provided 2020-06-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315007 SCV000739275 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-06-11 criteria provided, single submitter clinical testing The p.V709M variant (also known as c.2125G>A), located in coding exon 12 of the MYLK gene, results from a G to A substitution at nucleotide position 2125. The valine at codon 709 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species, and methionine is the reference amino acid on 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757531 SCV000885791 uncertain significance not provided 2021-08-15 criteria provided, single submitter clinical testing

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