ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5470G>A (p.Ala1824Thr) (rs147710374)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520650 SCV000618690 uncertain significance not specified 2017-06-30 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 RCV000617442 SCV000739239 uncertain significance Cardiovascular phenotype 2017-05-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
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 Thoracic aortic aneurysm and aortic dissection 2016-11-22 criteria provided, single submitter clinical testing
Invitae RCV000861530 SCV001001879 likely benign not provided 2018-03-15 criteria provided, single submitter clinical testing

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