ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.608C>A (p.Pro203Gln)

dbSNP: rs772426809
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539231 SCV000650568 uncertain significance Aortic aneurysm, familial thoracic 7 2023-09-21 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 203 of the MYLK protein (p.Pro203Gln). This variant is present in population databases (rs772426809, gnomAD 0.007%). This missense change has been observed in individual(s) with thoracic aortic aneurysm and dissection (Invitae). ClinVar contains an entry for this variant (Variation ID: 471740). 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. 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.
Ambry Genetics RCV002358564 SCV002656272 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-03-04 criteria provided, single submitter clinical testing The p.P203Q variant (also known as c.608C>A), located in coding exon 5 of the MYLK gene, results from a C to A substitution at nucleotide position 608. The proline at codon 203 is replaced by glutamine, an amino acid with similar properties. This amino acid position is conserved. 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.
GeneDx RCV003231528 SCV003930224 uncertain significance not provided 2023-05-30 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function

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