ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.5079G>A (p.Lys1693=) (rs141467675)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare 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).
Invitae RCV001000239 SCV000291204 benign Aortic aneurysm, familial thoracic 7 2019-12-31 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 RCV000620511 SCV000738407 benign Cardiovascular phenotype 2016-01-12 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000239 SCV001156786 benign Aortic aneurysm, familial thoracic 7 2018-07-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,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.
Integrated Genetics/Laboratory Corporation of America RCV000218585 SCV001361247 benign not specified 2019-12-14 criteria provided, single submitter clinical testing

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