ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.2791_2792delinsAT (p.Arg931Met)

dbSNP: rs1553803967
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599478 SCV000710132 uncertain significance not provided 2017-11-20 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the MYLK gene. The c.2791_2792delCGinsAT variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016). The c.2791_2792delCGinsAT variant results in a non-conservative amino acid substitution of an arginine (R) residue with a methionine (M) residue (R931M), which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function.
Ambry Genetics RCV002438545 SCV002751746 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-10-22 criteria provided, single submitter clinical testing The c.2791_2792delCGinsAT variant (also known as p.R931M), located in coding exon 15 of the MYLK gene, results from an in-frame deletion of CG and insertion of AT at nucleotide positions 2791 to 2792. This results in the substitution of the arginine residue for a methionine residue at codon 931, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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