ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5573T>G (p.Val1858Gly) (rs794728670)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182532 SCV000234880 uncertain significance not provided 2014-08-22 criteria provided, single submitter clinical testing p.Val1858Gly (GTG>GGG): c.5573 T>G in exon 39 of the MYH11 gene (NM_002474.2). A variant of unknown significance has been identified in the MYH11 gene. The V1858G variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The V1858G variant was not observed 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. In silico analysis predicts this variant is probably damaging to the protein structure/function. Additionally, this substitution occurs at a position that is conserved across species. However, the V1858G variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Furthermore, there are no missense mutations in nearby residues reported in association with TAAD, indicating that 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).

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