ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.5374G>A (p.Val1792Met)

gnomAD frequency: 0.00001  dbSNP: rs746213310
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000463934 SCV000550015 uncertain significance Aortic aneurysm, familial thoracic 7 2024-01-29 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1792 of the MYLK protein (p.Val1792Met). This variant is present in population databases (rs746213310, gnomAD 0.003%). 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: 409688). 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.
GeneDx RCV002291634 SCV002583990 uncertain significance not provided 2022-11-22 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function
Ambry Genetics RCV002348319 SCV002647146 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-07-07 criteria provided, single submitter clinical testing The p.V1792M variant (also known as c.5374G>A), located in coding exon 30 of the MYLK gene, results from a G to A substitution at nucleotide position 5374. The valine at codon 1792 is replaced by methionine, an amino acid with highly 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.
Fulgent Genetics, Fulgent Genetics RCV002489058 SCV002777287 uncertain significance Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 2021-08-23 criteria provided, single submitter clinical testing

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