Submissions for variant NM_002474.3(MYH11):c.4242T>G (p.Ala1414=)

gnomAD frequency: 0.45713  dbSNP: rs2075511

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000126950	SCV000269269	benign	not specified	2013-04-04	criteria provided, single submitter	clinical testing	Ala1421Ala in exon 32 of MYH11: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 46.4% (3990/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequ encing Project (http://evs.gs.washington.edu/EVS; dbSNP rs2075511).
PreventionGenetics, part of Exact Sciences	RCV000126950	SCV000306193	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000250056	SCV000317691	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
Illumina Laboratory Services, Illumina	RCV000609871	SCV000395263	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.
Illumina Laboratory Services, Illumina	RCV000316233	SCV000395264	benign	Lissencephaly, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000617695	SCV000738268	benign	Cardiovascular phenotype	2014-11-19	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001705917	SCV000885763	benign	not provided	2023-11-30	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000250056	SCV000910506	benign	Familial thoracic aortic aneurysm and aortic dissection	2018-03-07	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001116324	SCV001274382	benign	Lissencephaly 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.
Invitae	RCV000609871	SCV001716970	benign	Aortic aneurysm, familial thoracic 4	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001705917	SCV001838647	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000609871	SCV002014360	benign	Aortic aneurysm, familial thoracic 4	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001775609	SCV002014361	benign	Megacystis-microcolon-intestinal hypoperistalsis syndrome 2	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001775610	SCV002014362	benign	Visceral myopathy 2	2021-09-05	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000609871	SCV000733496	benign	Aortic aneurysm, familial thoracic 4		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000609871	SCV000745962	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	RCV000126950	SCV001969215	benign	not specified		no assertion criteria provided	clinical testing