ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5517G>A (p.Ala1839=) (rs28505375)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126966 SCV000170497 benign not specified 2013-02-26 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,PreventionGenetics RCV000126966 SCV000306209 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000245881 SCV000317713 benign Familial thoracic aortic aneurysm and aortic dissection 2015-07-17 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 Clinical Services Laboratory,Illumina RCV000245881 SCV000395205 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000292243 SCV000395206 benign Lissencephaly 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Invitae RCV000460816 SCV000556113 benign Aortic aneurysm, familial thoracic 4 2019-12-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000126966 SCV000711373 benign not specified 2013-04-04 criteria provided, single submitter clinical testing Ala1846Ala in exon 40 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 21.4% (942/4394) o f African American chromosomes from a broad population by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS; dbSNP rs28505375).
Ambry Genetics RCV000618634 SCV000738328 benign Cardiovascular phenotype 2014-11-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000460816 SCV000884168 benign Aortic aneurysm, familial thoracic 4 2018-07-22 criteria provided, single submitter clinical testing
Color RCV000245881 SCV000910584 benign Familial thoracic aortic aneurysm and aortic dissection 2018-03-07 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000460816 SCV001274135 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.

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