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

gnomAD frequency: 0.00025  dbSNP: rs146228576

Total submissions: 9

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
Labcorp Genetics (formerly Invitae), Labcorp	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	2024-08-01	criteria provided, single submitter	clinical testing	MYH11: BS1