Submissions for variant NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln)

gnomAD frequency: 0.00216  dbSNP: rs137934837

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000417390	SCV000234868	likely benign	not specified	2018-01-24	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000227161	SCV000285794	likely benign	Aortic aneurysm, familial thoracic 4	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000157332	SCV000317804	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-04-13	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001311433	SCV000604354	likely benign	not provided	2023-10-26	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000659922	SCV000781826	likely benign	Connective tissue disorder	2016-11-01	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000157332	SCV000910817	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-03-05	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000227161	SCV001277603	likely benign	Aortic aneurysm, familial thoracic 4	2019-01-11	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000417390	SCV001433258	likely benign	not specified	2020-03-23	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001311433	SCV001501600	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	MYH11: BS1, BS2
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000157332	SCV002042940	benign	Familial thoracic aortic aneurysm and aortic dissection	2019-10-29	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001311433	SCV005217529	likely benign	not provided		criteria provided, single submitter	not provided
Blueprint Genetics	RCV000157332	SCV000207069	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2014-05-19	no assertion criteria provided	clinical testing
Knight Diagnostic Laboratories, Oregon Health and Sciences University	RCV000227161	SCV000493765	uncertain significance	Aortic aneurysm, familial thoracic 4	2015-09-26	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003917540	SCV004742044	likely benign	MYH11-related disorder	2019-05-22	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).