ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5756G>A (p.Arg1919His)

gnomAD frequency: 0.00001  dbSNP: rs1284202501
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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 RCV001180707 SCV001345704 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-10-09 criteria provided, single submitter clinical testing This missense variant replaces arginine with histidine at codon 1926 of the MYH11 protein. Computational prediction suggests that this variant may have a 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 2/281978 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001875997 SCV002170198 uncertain significance Aortic aneurysm, familial thoracic 4 2022-10-30 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MYH11 protein function. ClinVar contains an entry for this variant (Variation ID: 921354). This variant has not been reported in the literature in individuals affected with MYH11-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.004%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1926 of the MYH11 protein (p.Arg1926His).
All of Us Research Program, National Institutes of Health RCV001180707 SCV004815492 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-08-14 criteria provided, single submitter clinical testing This missense variant replaces arginine with histidine at codon 1926 of the MYH11 protein. Computational prediction tools and conservation analyses suggest that this variant may have deleterious impact on the protein function. Computational splicing tools suggest that this variant may not impact RNA splicing. 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 2/281978 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.

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