ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.1121A>G (p.Asp374Gly)

gnomAD frequency: 0.00001  dbSNP: rs1174407076
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001190813 SCV001358397 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-07-11 criteria provided, single submitter clinical testing This missense variant replaces aspartic acid with glycine at codon 381 of the MYH11 protein. Computational prediction tools and conservation analyses are inconclusive regarding the impact of this variant on the protein function. Computational splicing tools suggest that this variant may create a cryptic donor site, which may result in a deletion of three amino acids. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 2/251298 chromosomes in the general population by the Genome Aggregation Database (gnomAD). 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.
Fulgent Genetics, Fulgent Genetics RCV002497666 SCV002793894 uncertain significance Aortic aneurysm, familial thoracic 4; Visceral myopathy 2; Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 2022-04-29 criteria provided, single submitter clinical testing

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