ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5343GAA[1] (p.Lys1782del)

dbSNP: rs2151198418
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001524614 SCV001734536 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-11-08 criteria provided, single submitter clinical testing This variant causes a deletion of lysine at codon 1789 of the MYH11 protein. 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 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.
MGZ Medical Genetics Center RCV002290714 SCV002581068 uncertain significance Aortic aneurysm, familial thoracic 4 2022-08-04 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001524614 SCV004815560 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-01-10 criteria provided, single submitter clinical testing This variant causes a deletion of lysine at codon 1789 of the MYH11 protein. 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 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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