Submissions for variant NM_053025.4(MYLK):c.5079G>A (p.Lys1693=)

gnomAD frequency: 0.00575  dbSNP: rs141467675

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000218585	SCV000269311	benign	not specified	2013-04-04	criteria provided, single submitter	clinical testing	Lys1693Lys in exon 30 of MYLK: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 1.9% (83/4406) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs141467675).
Labcorp Genetics (formerly Invitae), Labcorp	RCV001000239	SCV000291204	benign	Aortic aneurysm, familial thoracic 7	2025-01-20	criteria provided, single submitter	clinical testing
GeneDx	RCV000218585	SCV000528016	benign	not specified	2017-01-05	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.
Ambry Genetics	RCV002315652	SCV000738407	benign	Familial thoracic aortic aneurysm and aortic dissection	2016-01-12	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001812229	SCV001156786	benign	not provided	2023-08-07	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001000239	SCV001304771	benign	Aortic aneurysm, familial thoracic 7	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000218585	SCV001361247	benign	not specified	2019-12-14	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002500689	SCV002807251	benign	Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intestinal hypoperistalsis syndrome 1	2021-09-13	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001812229	SCV005303587	benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000218585	SCV001808600	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000218585	SCV001965990	benign	not specified		no assertion criteria provided	clinical testing