ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5800A>T (p.Thr1934Ser)

gnomAD frequency: 0.00171  dbSNP: rs113667224
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 14
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER _CC_NCGL, University of Washington RCV000211551 SCV000212205 likely benign Aortic aneurysm, familial thoracic 6 2015-03-11 criteria provided, single submitter research
GeneDx RCV001092816 SCV000234830 likely benign not provided 2021-04-15 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28600387, 25500235, 25188385, 30122538, 32859249)
Ambry Genetics RCV000253974 SCV000317314 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-03-20 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.
Illumina Laboratory Services, Illumina RCV000625176 SCV000395189 uncertain significance Aortic aneurysm, familial thoracic 4 2018-01-13 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000625176 SCV000744010 likely benign Aortic aneurysm, familial thoracic 4 2016-07-05 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625176 SCV000745467 likely benign Aortic aneurysm, familial thoracic 4 2017-09-12 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680547 SCV000807958 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000253974 SCV000911058 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-03-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001092816 SCV001159811 likely benign not provided 2022-12-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001092816 SCV001249509 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing MYH11: BP4
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000253974 SCV002042918 benign Familial thoracic aortic aneurysm and aortic dissection 2019-09-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000625176 SCV002945305 benign Aortic aneurysm, familial thoracic 4 2022-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002516856 SCV003591233 likely benign Inborn genetic diseases 2022-08-09 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.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001092816 SCV001800412 likely benign not provided no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.