ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4628A>C (p.Glu1543Ala)

dbSNP: rs1555551985
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000508152 SCV000604333 uncertain significance not specified 2016-08-23 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV005402936 SCV006064907 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-06-24 criteria provided, single submitter clinical testing This missense variant replaces glutamic acid with alanine at codon 1550 of the MYH11 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 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 1/251474 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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