ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.2308T>C (p.Phe770Leu)

dbSNP: rs571704734
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV001258194 SCV001435088 uncertain significance Aortic aneurysm, familial thoracic 4 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001258194 SCV003785777 uncertain significance Aortic aneurysm, familial thoracic 4 2024-06-10 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 777 of the MYH11 protein (p.Phe777Leu). This variant is present in population databases (rs571704734, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with MYH11-related conditions. ClinVar contains an entry for this variant (Variation ID: 979127). 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 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.
Ambry Genetics RCV004649547 SCV005139127 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-05-30 criteria provided, single submitter clinical testing The p.F770L variant (also known as c.2308T>C), located in coding exon 18 of the MYH11 gene, results from a T to C substitution at nucleotide position 2308. The phenylalanine at codon 770 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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