ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5470G>A (p.Ala1824Thr)

gnomAD frequency: 0.00036  dbSNP: rs147710374
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001696829 SCV000618690 likely benign not provided 2021-09-18 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the MYH11 gene. The A1824T variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 0.1% alleles from individuals of African ancestry in large population cohorts, indicating it may be a rare benign variant in this population (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Nevertheless, the A1824T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals.
Ambry Genetics RCV000770692 SCV000739239 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-08-21 criteria provided, single submitter clinical testing The p.A1824T variant (also known as c.5470G>A), located in coding exon 37 of the MYH11 gene, results from a G to A substitution at nucleotide position 5470. The alanine at codon 1824 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659927 SCV000781831 uncertain significance Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770692 SCV000902162 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-11-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000861530 SCV001001879 likely benign Aortic aneurysm, familial thoracic 4 2025-01-06 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000770692 SCV001355734 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-01-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003235265 SCV003934709 likely benign not specified 2023-05-18 criteria provided, single submitter clinical testing

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