Submissions for variant NM_002474.3(MYH11):c.5874G>A (p.Thr1958=)

gnomAD frequency: 0.00001  dbSNP: rs761000142

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV001187548	SCV000739195	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-04-01	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.
Color Diagnostics, LLC DBA Color Health	RCV001187548	SCV001354368	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2019-03-11	criteria provided, single submitter	clinical testing	Variant of Uncertain Significance due to insufficient evidence: This variant changes a single nucleotide in the 3' untranslated region of the MYH11 gene. Computational splicing tools suggest that this variant may not impact RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 7/282860 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the role of this variant in disease conclusively.
CeGaT Center for Human Genetics Tuebingen	RCV003326476	SCV004033456	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	MYH11: BP4, BP7