ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5585G>A (p.Arg1862His)

gnomAD frequency: 0.00025  dbSNP: rs146228576
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182534 SCV000234882 likely benign not provided 2020-10-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28679693)
Illumina Laboratory Services, Illumina RCV000280640 SCV000395200 uncertain significance Lissencephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001085094 SCV000543722 benign Aortic aneurysm, familial thoracic 4 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000776147 SCV000739196 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-10-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Diagnostics, LLC DBA Color Health RCV000776147 SCV000911145 benign Familial thoracic aortic aneurysm and aortic dissection 2018-04-07 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001085094 SCV001279560 uncertain significance Aortic aneurysm, familial thoracic 4 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000776147 SCV001333415 benign Familial thoracic aortic aneurysm and aortic dissection 2018-03-23 criteria provided, single submitter clinical testing
Department of Vascular Biology, Beijing Anzhen Hospital RCV001374829 SCV001439578 uncertain significance Isolated thoracic aortic aneurysm 2018-09-01 criteria provided, single submitter research
CeGaT Center for Human Genetics Tuebingen RCV000182534 SCV004701822 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing MYH11: BS1

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