Submissions for variant NM_053025.4(MYLK):c.1219G>T (p.Gly407Cys)

gnomAD frequency: 0.00053  dbSNP: rs199719143

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002311160	SCV000320321	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2015-09-22	criteria provided, single submitter	clinical testing	The p.G407C variant (also known as c.1219G>T), located in coding exon 7 of the MYLK gene, results from a G to T substitution at nucleotide position 1219. The glycine at codon 407 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is poorly 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.
Invitae	RCV000805986	SCV000945964	likely benign	Aortic aneurysm, familial thoracic 7	2023-12-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001565221	SCV001788527	uncertain significance	not provided	2020-08-07	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences	RCV003920017	SCV004727745	likely benign	MYLK-related condition	2023-01-30	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).