Submissions for variant NM_002474.3(MYH11):c.4659C>T (p.Asp1553=)

gnomAD frequency: 0.00016  dbSNP: rs141031021

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000427691	SCV000528632	likely benign	not specified	2016-06-13	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.
Invitae	RCV000535083	SCV000641045	likely benign	Aortic aneurysm, familial thoracic 4	2023-11-05	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000771851	SCV000904569	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-10-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000771851	SCV002633763	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2021-01-11	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.
CeGaT Center for Human Genetics Tuebingen	RCV003311814	SCV004010461	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	MYH11: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003932650	SCV004761251	likely benign	MYH11-related condition	2022-05-11	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).