ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.2155A>G (p.Ile719Val)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003223902 SCV003919385 uncertain significance not provided 2022-10-24 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
Labcorp Genetics (formerly Invitae), Labcorp RCV003779800 SCV004680632 uncertain significance Aortic aneurysm, familial thoracic 4 2023-09-10 criteria provided, single submitter clinical testing 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 MYH11 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. ClinVar contains an entry for this variant (Variation ID: 2499810). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 726 of the MYH11 protein (p.Ile726Val). This variant is present in population databases (rs754008415, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with MYH11-related conditions.
Ambry Genetics RCV004285600 SCV005019238 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-11-17 criteria provided, single submitter clinical testing The p.I719V variant (also known as c.2155A>G), located in coding exon 16 of the MYH11 gene, results from an A to G substitution at nucleotide position 2155. The isoleucine at codon 719 is replaced by valine, 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.

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