Submissions for variant NM_002474.3(MYH11):c.792T>C (p.Tyr264=)

gnomAD frequency: 0.03006  dbSNP: rs34341838

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000126978	SCV000170509	benign	not specified	2012-11-29	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000126978	SCV000269276	benign	not specified	2013-04-04	criteria provided, single submitter	clinical testing	Tyr271Tyr in exon 9 of MYH11: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 4.2% (364/8600) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs34341838).
PreventionGenetics, part of Exact Sciences	RCV000126978	SCV000306216	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000244900	SCV000317335	benign	Familial thoracic aortic aneurysm and aortic dissection	2015-02-25	criteria provided, single submitter	clinical testing	General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Illumina Laboratory Services, Illumina	RCV000476101	SCV000395391	benign	Aortic aneurysm, familial thoracic 4	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV000476101	SCV000556121	benign	Aortic aneurysm, familial thoracic 4	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000618063	SCV000738290	benign	Cardiovascular phenotype	2014-12-23	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000476101	SCV000744025	benign	Aortic aneurysm, familial thoracic 4	2014-10-10	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000476101	SCV000781804	likely benign	Aortic aneurysm, familial thoracic 4	2016-11-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001723698	SCV000885766	benign	not provided	2023-11-10	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000244900	SCV000902587	benign	Familial thoracic aortic aneurysm and aortic dissection	2018-03-09	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000244900	SCV004816827	benign	Familial thoracic aortic aneurysm and aortic dissection	2024-02-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000476101	SCV000745974	benign	Aortic aneurysm, familial thoracic 4	2014-11-19	no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001723698	SCV001957870	likely benign	not provided		no assertion criteria provided	clinical testing