ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5787-4713C>A (rs765030635)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599264 SCV000709871 uncertain significance not provided 2018-02-01 criteria provided, single submitter clinical testing The P1931H variant in the MYH11 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The P1931H variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The P1931H variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. We interpret P1931H as a variant of uncertain significance.
Color RCV000772502 SCV000905681 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2018-10-12 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This missense variant is located in the C-terminal region of the MYH11 protein. Computational prediction tools and conservation analyses are inconclusive regarding the impact of this variant on the protein function. Computational splicing tools suggest that this variant may not impact RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with cardiovascular disorders in the literature. This variant is rare in the general population and has been identified in 2/269506 chromosomes by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the pathogenicity of this variant conclusively.

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