ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5375G>A (p.Arg1792Gln)

gnomAD frequency: 0.00002  dbSNP: rs751495086
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182529 SCV000234877 uncertain significance not provided 2022-12-28 criteria provided, single submitter clinical testing Has not been previously published in association with MYH11-related disorders to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 18798114)
Color Diagnostics, LLC DBA Color Health RCV001186484 SCV001352920 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-01-26 criteria provided, single submitter clinical testing This missense variant replaces arginine with glutamine at codon 1799 of the MYH11 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 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 8/251116 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.
Invitae RCV001308821 SCV001498291 uncertain significance Aortic aneurysm, familial thoracic 4 2022-03-05 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1799 of the MYH11 protein (p.Arg1799Gln). This variant is present in population databases (rs751495086, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with MYH11-related conditions. ClinVar contains an entry for this variant (Variation ID: 201084). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
Ambry Genetics RCV001186484 SCV002645141 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-11-27 criteria provided, single submitter clinical testing The p.R1792Q variant (also known as c.5375G>A), located in coding exon 37 of the MYH11 gene, results from a G to A substitution at nucleotide position 5375. The arginine at codon 1792 is replaced by glutamine, an amino acid with highly similar properties, and is located in the coiled coil domain. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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