ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5393G>A (p.Arg1798Gln) (rs148938946)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182563 SCV000234913 uncertain significance not provided 2014-11-06 criteria provided, single submitter clinical testing p.Arg1798Gln (CGG>CAG): c.5393 G>A in exon 38 of the MYH11 gene (NM_002474.2). A variant of unknown significance has been identified in the MYH11 gene.The R1798Q variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The R1798Q variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R1798Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is class-conserved. However, in silico analysis predicts this variant likely does not alter the protein structure/function. Furthermore, no missense mutations in nearby residues have been reported in association with TAAD, indicating this region of the protein may be tolerant of change. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in TAAD panel(s).
Ambry Genetics RCV000249743 SCV000319423 uncertain significance Cardiovascular phenotype 2015-03-04 criteria provided, single submitter clinical testing Insufficient or inconclusive evidence
Invitae RCV001087366 SCV001003832 likely benign Aortic aneurysm, familial thoracic 4 2019-12-31 criteria provided, single submitter clinical testing
Color RCV001180372 SCV001345292 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2018-11-27 criteria provided, single submitter clinical testing

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