ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.154G>A (p.Glu52Lys)

dbSNP: rs2151381441
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002015247 SCV002283446 uncertain significance Aortic aneurysm, familial thoracic 4 2021-07-17 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with MYH11-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with lysine at codon 52 of the MYH11 protein (p.Glu52Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine.
All of Us Research Program, National Institutes of Health RCV004011092 SCV004831652 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-07-10 criteria provided, single submitter clinical testing This missense variant replaces glutamic acid with lysine at codon 52 of the MYH11 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, 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 not been identified 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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