Submissions for variant NM_002474.3(MYH11):c.4522A>G (p.Met1508Val)

gnomAD frequency: 0.00480  dbSNP: rs35176378

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000126953	SCV000170484	benign	not specified	2014-01-18	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	RCV000126953	SCV000306197	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000244209	SCV000319367	benign	Cardiovascular phenotype	2015-07-20	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
Invitae	RCV000471823	SCV000556086	benign	Aortic aneurysm, familial thoracic 4	2024-01-27	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000471823	SCV000745477	benign	Aortic aneurysm, familial thoracic 4	2015-11-03	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001812085	SCV000884170	benign	not provided	2021-01-29	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769663	SCV000901071	benign	Familial thoracic aortic aneurysm and aortic dissection	2022-12-07	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000769663	SCV000903202	benign	Familial thoracic aortic aneurysm and aortic dissection	2018-03-07	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000471823	SCV001279812	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.
CeGaT Center for Human Genetics Tuebingen	RCV001812085	SCV003917487	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	MYH11: BS1
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000471823	SCV000745960	benign	Aortic aneurysm, familial thoracic 4	2015-05-26	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000126953	SCV002034138	benign	not specified		no assertion criteria provided	clinical testing