ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.434A>G (p.Lys145Arg)

gnomAD frequency: 0.00001  dbSNP: rs755005682
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002055 SCV001159883 uncertain significance Aortic aneurysm, familial thoracic 4 2018-09-05 criteria provided, single submitter clinical testing The MYH11 c.434A>G; p.Lys145Arg variant (rs755005682), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found on a single chromosome in the Genome Aggregation Database, indicating it is not a common polymorphism. The lysine at codon 434 is highly conserved, but computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Lys145Arg variant is uncertain at this time.
All of Us Research Program, National Institutes of Health RCV004004470 SCV004828233 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-04-25 criteria provided, single submitter clinical testing This missense variant replaces lysine with arginine at codon 145 of the MYH11 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with MYH11-related disorders in the literature. This variant has been identified in 1/251492 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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