Submissions for variant NM_002474.3(MYH11):c.5450C>T (p.Ala1817Val)

gnomAD frequency: 0.00031  dbSNP: rs142654744

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000182530	SCV000234878	uncertain significance	not provided	2023-10-24	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign in association with TAAD to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 18391202, 21529752)
Ambry Genetics	RCV000778044	SCV000739207	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2021-12-22	criteria provided, single submitter	clinical testing	The p.A1817V variant (also known as c.5450C>T), located in coding exon 37 of the MYH11 gene, results from a C to T substitution at nucleotide position 5450. The alanine at codon 1817 is replaced by valine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000680551	SCV000807962	likely benign	Connective tissue disorder	2018-06-01	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000778044	SCV000914158	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-10-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001427315	SCV001629990	likely benign	Aortic aneurysm, familial thoracic 4	2023-12-14	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000182530	SCV002048653	likely benign	not provided	2020-12-30	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003927710	SCV004742069	likely benign	MYH11-related disorder	2020-09-02	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).