ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.453G>A (p.Pro151=) (rs61734199)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182487 SCV000234832 benign not specified 2014-09-18 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,PreventionGenetics RCV000182487 SCV000306196 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000248164 SCV000319391 likely benign Familial thoracic aortic aneurysm and aortic dissection 2015-01-20 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Illumina Clinical Services Laboratory,Illumina RCV000472086 SCV000395400 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.
Invitae RCV000472086 SCV000556103 benign Aortic aneurysm, familial thoracic 4 2020-11-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586758 SCV000697647 benign not provided 2016-09-26 criteria provided, single submitter clinical testing Variant summary: The MYH11 c.453G>A (p.Pro151Pro) variant causes a synonymous change with 5/5 splice prediction tools predicting no significant impact on normal splicing and the removal of an ESE binding site, however, these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 104/121408 (1/1167), which significantly exceeds the estimated maximal expected allele frequency for a pathogenic MYH11 variant of 1/769230, suggesting this variant is likely a benign polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals via publications, however, a clinical diagnostic laboratory cites the variant as "benign." Therfore, the variant of interest has been classified as Benign.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000182487 SCV000702027 benign not specified 2016-10-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618000 SCV000738374 likely benign Cardiovascular phenotype 2015-07-20 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000472086 SCV000745488 likely benign Aortic aneurysm, familial thoracic 4 2017-06-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000472086 SCV000745978 benign Aortic aneurysm, familial thoracic 4 2017-01-11 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000586758 SCV000884171 benign not provided 2018-06-29 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000248164 SCV000902169 benign Familial thoracic aortic aneurysm and aortic dissection 2017-05-15 criteria provided, single submitter clinical testing
Color Health, Inc RCV000248164 SCV000904562 benign Familial thoracic aortic aneurysm and aortic dissection 2018-10-15 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000586758 SCV001249521 likely benign not provided 2020-09-01 criteria provided, single submitter clinical testing

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