Submissions for variant NM_002474.3(MYH11):c.4158C>T (p.Thr1386=)

gnomAD frequency: 0.00746  dbSNP: rs112377790

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000126949	SCV000170480	benign	not specified	2013-07-23	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.
PreventionGenetics, part of Exact Sciences	RCV000126949	SCV000306190	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000244031	SCV000317910	benign	Familial thoracic aortic aneurysm and aortic dissection	2015-06-19	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
Labcorp Genetics (formerly Invitae), Labcorp	RCV000474754	SCV000556132	benign	Aortic aneurysm, familial thoracic 4	2025-02-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000619106	SCV000738306	benign	Cardiovascular phenotype	2014-11-25	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	RCV000474754	SCV000744018	benign	Aortic aneurysm, familial thoracic 4	2014-10-10	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000757514	SCV000885767	benign	not provided	2023-11-20	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000244031	SCV000901074	benign	Familial thoracic aortic aneurysm and aortic dissection	2016-03-16	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000244031	SCV000902650	benign	Familial thoracic aortic aneurysm and aortic dissection	2018-03-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000757514	SCV001150821	benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	MYH11: BP4, BP7, BS1, BS2; NDE1: BS1, BS2
Illumina Laboratory Services, Illumina	RCV000474754	SCV001274385	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina	RCV001116326	SCV001274386	benign	Lissencephaly 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.
All of Us Research Program, National Institutes of Health	RCV000244031	SCV004821245	benign	Familial thoracic aortic aneurysm and aortic dissection	2024-02-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000757514	SCV005217534	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000474754	SCV000745963	benign	Aortic aneurysm, familial thoracic 4	2014-11-19	no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000126949	SCV001976155	benign	not specified		no assertion criteria provided	clinical testing