Submissions for variant NM_053025.4(MYLK):c.1631G>A (p.Arg544Gln)

gnomAD frequency: 0.00010  dbSNP: rs146724203

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000602126	SCV000726734	likely benign	not specified	2018-01-17	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	RCV001400549	SCV001602353	likely benign	Aortic aneurysm, familial thoracic 7	2024-01-25	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003917947	SCV004743460	uncertain significance	MYLK-related condition	2023-10-26	criteria provided, single submitter	clinical testing	The MYLK c.1631G>A variant is predicted to result in the amino acid substitution p.Arg544Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.12% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/3-123444811-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.