ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.3235G>A (p.Ala1079Thr)

gnomAD frequency: 0.00006  dbSNP: rs140479999
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001181381 SCV000739240 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-06-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Diagnostics, LLC DBA Color Health RCV001181381 SCV001346518 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-05-17 criteria provided, single submitter clinical testing This missense variant replaces alanine with threonine at codon 1086 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 13/282638 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.
MGZ Medical Genetics Center RCV002289907 SCV002580967 uncertain significance Aortic aneurysm, familial thoracic 4 2022-07-15 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001181381 SCV004821352 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-07-20 criteria provided, single submitter clinical testing This missense variant replaces alanine with threonine at codon 1086 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 cardiovascular disorders in the literature. This variant has been identified in 13/282638 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.
GeneDx RCV004722983 SCV005333567 uncertain significance not provided 2023-06-28 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

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