ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.2741A>G (p.Asp914Gly)

gnomAD frequency: 0.00001  dbSNP: rs544456463
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694445 SCV000822892 likely benign Aortic aneurysm, familial thoracic 7 2023-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002440469 SCV002749405 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-10-04 criteria provided, single submitter clinical testing The p.D914G variant (also known as c.2741A>G), located in coding exon 15 of the MYLK gene, results from an A to G substitution at nucleotide position 2741. The aspartic acid at codon 914 is replaced by glycine, an amino acid with similar properties. This amino acid position is not well conserved in available 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.

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