ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.3558C>T (p.Thr1186=) (rs40305)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619961 SCV000738271 benign Cardiovascular phenotype 2014-12-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000614806 SCV000734238 benign Aortic aneurysm, familial thoracic 7 no assertion criteria provided clinical testing
GeneDx RCV000218051 SCV000525630 benign not specified 2016-09-22 no assertion criteria provided 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.
Illumina Clinical Services Laboratory,Illumina RCV000324555 SCV000440296 likely benign Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589977 SCV000699793 benign not provided 2016-02-12 criteria provided, single submitter clinical testing Variant summary: This c.3558C>T variant affects a non-conserved nucleotide, resulting in synonymous amino acid change not very close to exon-intron boundary. 5/5 in silico programs via Alamut predict that this variant does not affect normal splicing. This variant was found in 70165/121320 control chromosomes from ExAC at a frequency of 0.5783465, which is more than 46266 times greater than the maximal expected frequency of a pathogenic allele (0.0000125) in this gene. This shows that this variant is a very common benign polymorphism. Taken together, this variant has been classified as Benign.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000218051 SCV000269302 benign not specified 2013-04-04 criteria provided, single submitter clinical testing Thr1186Thr in exon 19 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 23.7% (2042/8600) o f European American chromosomes from a broad population by the NHLBI Exome Seque ncing Project (http://evs.gs.washington.edu/EVS; dbSNP rs40305).
PreventionGenetics RCV000218051 SCV000315288 benign not specified criteria provided, single submitter clinical testing

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