ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5887G>A (p.Ala1963Thr)

gnomAD frequency: 0.00004  dbSNP: rs146413415
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486651 SCV000566600 uncertain significance not provided 2023-05-16 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Color Diagnostics, LLC DBA Color Health RCV001189159 SCV001356389 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-09-12 criteria provided, single submitter clinical testing This variant is located in the 3' untranslated region of the MYH11 protein. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 11/282854 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.
Ambry Genetics RCV001189159 SCV002649491 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-02-04 criteria provided, single submitter clinical testing The p.A1963T variant (also known as c.5887G>A), located in coding exon 40 of the MYH11 gene, results from a G to A substitution at nucleotide position 5887. The alanine at codon 1963 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and threonine is the reference amino acid in other 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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