ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.3844G>A (p.Val1282Ile)

gnomAD frequency: 0.00001  dbSNP: rs763285173
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522533 SCV000620606 uncertain significance not provided 2020-01-27 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Fulgent Genetics, Fulgent Genetics RCV002476068 SCV002789307 uncertain significance Aortic aneurysm, familial thoracic 4; Visceral myopathy 2; Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 2021-12-03 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003528183 SCV004359381 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-11-06 criteria provided, single submitter clinical testing This missense variant replaces valine with isoleucine at codon 1289 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 been identified in 1/281024 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.
All of Us Research Program, National Institutes of Health RCV003528183 SCV004823966 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-06-08 criteria provided, single submitter clinical testing This missense variant replaces valine with isoleucine at codon 1289 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 been identified in 1/281024 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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