ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.161G>A (p.Gly54Glu)

gnomAD frequency: 0.00001  dbSNP: rs767453947
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002313450 SCV000739333 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2017-06-06 criteria provided, single submitter clinical testing The p.G54E variant (also known as c.161G>A), located in coding exon 1 of the MYLK gene, results from a G to A substitution at nucleotide position 161. The glycine at codon 54 is replaced by glutamic acid, an amino acid with some similar properties, and is located in the Ig-like C2-type 1 domain. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV001577928 SCV001805423 uncertain significance not provided 2022-06-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002499007 SCV002790392 uncertain significance Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 2021-09-06 criteria provided, single submitter clinical testing
Invitae RCV003640928 SCV004525472 uncertain significance Aortic aneurysm, familial thoracic 7 2023-12-30 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 54 of the MYLK protein (p.Gly54Glu). This variant is present in population databases (rs767453947, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with MYLK-related conditions. ClinVar contains an entry for this variant (Variation ID: 520009). 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 with a negative predictive value of 95%. 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.

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