Submissions for variant NM_002474.3(MYH11):c.987C>T (p.Thr329=)

gnomAD frequency: 0.08684  dbSNP: rs4781689

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000126979	SCV000170510	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	RCV000126979	SCV000269259	benign	not specified	2013-04-04	criteria provided, single submitter	clinical testing	Thr336Thr in exon 10 of MYH11: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 9.9% (855/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs4781689).
PreventionGenetics, part of Exact Sciences	RCV000126979	SCV000306160	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000617028	SCV000317715	benign	Cardiovascular phenotype	2015-02-10	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	RCV000625467	SCV000395390	benign	Aortic aneurysm, familial thoracic 4	2018-01-12	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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625467	SCV000745484	likely benign	Aortic aneurysm, familial thoracic 4	2017-06-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001812095	SCV000885760	benign	not provided	2024-11-26	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000242819	SCV000910539	benign	Familial thoracic aortic aneurysm and aortic dissection	2018-03-16	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000625467	SCV001726204	benign	Aortic aneurysm, familial thoracic 4	2025-02-04	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000242819	SCV004816816	benign	Familial thoracic aortic aneurysm and aortic dissection	2024-02-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001812095	SCV005213393	likely benign	not provided		criteria provided, single submitter	not provided
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000126979	SCV006069234	benign	not specified	2025-04-09	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000625467	SCV000745973	benign	Aortic aneurysm, familial thoracic 4	2014-11-19	no assertion criteria provided	clinical testing