ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.2061C>T (p.Ser687=)

gnomAD frequency: 0.06148  dbSNP: rs880071
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126932 SCV000170463 benign not specified 2012-11-16 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000126932 SCV000269263 benign not specified 2013-04-04 criteria provided, single submitter clinical testing Ser694Ser in exon 18 of MYH11: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 6.7% (576/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs880071).
PreventionGenetics, part of Exact Sciences RCV000126932 SCV000306166 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000242575 SCV000317801 benign Familial thoracic aortic aneurysm and aortic dissection 2015-02-26 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;Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene
Illumina Laboratory Services, Illumina RCV000757511 SCV000395371 benign 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 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.
Ambry Genetics RCV000617498 SCV000738303 benign Cardiovascular phenotype 2014-11-24 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 RCV001812076 SCV000885764 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000242575 SCV000902569 benign Familial thoracic aortic aneurysm and aortic dissection 2018-03-07 criteria provided, single submitter clinical testing
Invitae RCV000757511 SCV001726992 benign Aortic aneurysm, familial thoracic 4 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000757511 SCV002014381 benign Aortic aneurysm, familial thoracic 4 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001775603 SCV002014382 benign Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001775604 SCV002014383 benign Visceral myopathy 2 2021-09-05 criteria provided, single submitter clinical testing

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