ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.1271A>T (p.Glu424Val)

gnomAD frequency: 0.00001  dbSNP: rs779309547
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229799 SCV000291187 uncertain significance Aortic aneurysm, familial thoracic 7 2023-09-10 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 241750). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MYLK protein function. This variant has not been reported in the literature in individuals affected with MYLK-related conditions. This variant is present in population databases (rs779309547, gnomAD 0.003%). This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 424 of the MYLK protein (p.Glu424Val).
Ambry Genetics RCV002374380 SCV002686333 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-05-06 criteria provided, single submitter clinical testing The p.E424V variant (also known as c.1271A>T), located in coding exon 7 of the MYLK gene, results from an A to T substitution at nucleotide position 1271. The glutamic acid at codon 424 is replaced by valine, an amino acid with dissimilar properties, and is located in the Ig-like C2-type 3 domain. This amino acid position is 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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