Submissions for variant NM_053025.4(MYLK):c.1474G>A (p.Ala492Thr)

gnomAD frequency: 0.00048  dbSNP: rs143010767

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000529711	SCV000650513	likely benign	Aortic aneurysm, familial thoracic 7	2024-01-19	criteria provided, single submitter	clinical testing
GeneDx	RCV001697307	SCV000725151	likely benign	not provided	2020-11-24	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000680575	SCV000807990	likely benign	Connective tissue disorder	2018-06-01	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769341	SCV000900724	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2017-05-11	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001779002	SCV002015042	likely benign	not specified	2021-10-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000769341	SCV002697046	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2022-12-28	criteria provided, single submitter	clinical testing	The p.A492T variant (also known as c.1474G>A), located in coding exon 8 of the MYLK gene, results from a G to A substitution at nucleotide position 1474. The alanine at codon 492 is replaced by threonine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species, and threonine is the reference amino acid in other 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.