Submissions for variant NM_053025.4(MYLK):c.593A>G (p.Asn198Ser)

gnomAD frequency: 0.00001  dbSNP: rs201835018

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000226549	SCV000291206	likely benign	Aortic aneurysm, familial thoracic 7	2023-11-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000498107	SCV000590640	likely benign	not provided	2019-06-06	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000659933	SCV000781837	likely benign	Connective tissue disorder	2016-11-01	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798743	SCV002043679	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2021-05-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001798743	SCV002649938	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2021-07-15	criteria provided, single submitter	clinical testing	The p.N198S variant (also known as c.593A>G), located in coding exon 5 of the MYLK gene, results from an A to G substitution at nucleotide position 593. The asparagine at codon 198 is replaced by serine, an amino acid with highly similar properties. This amino acid position is conserved. 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003317170	SCV004021268	likely benign	not specified	2023-06-10	criteria provided, single submitter	clinical testing