ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.2345G>A (p.Arg782Gln)

gnomAD frequency: 0.00001  dbSNP: rs200835799
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000865140 SCV001006062 likely benign Aortic aneurysm, familial thoracic 4 2024-08-10 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001190645 SCV001358198 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV001190645 SCV002732635 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-07-22 criteria provided, single submitter clinical testing The p.R782Q variant (also known as c.2345G>A), located in coding exon 18 of the MYH11 gene, results from a G to A substitution at nucleotide position 2345. The arginine at codon 782 is replaced by glutamine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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