ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5757C>T (p.Arg1919=) (rs138168272)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000244631 SCV000317375 benign Cardiovascular phenotype 2015-07-07 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
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770688 SCV000902156 benign Thoracic aortic aneurysm and aortic dissection 2016-07-04 criteria provided, single submitter clinical testing
GeneDx RCV000126970 SCV000170501 benign not specified 2014-03-07 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.
Illumina Clinical Services Laboratory,Illumina RCV000321069 SCV000395198 uncertain significance Lissencephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000126970 SCV000919821 benign not specified 2018-11-23 criteria provided, single submitter clinical testing Variant summary: MYH11 c.5778C>T alters a non-conserved nucleotide resulting in a synonymous change. Several computational tools predict a significant impact on normal splicing: Three predict the variant creates a 5' donor site. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.001 in 120994 control chromosomes in the ExAC database, including 1 homozygote. The observed variant frequency is approximately 800 fold of the estimated maximal expected allele frequency for a pathogenic variant in MYH11 causing Aortopathy phenotype (1.3e-06), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.5778C>T in individuals affected with Aortopathy and no experimental evidence demonstrating its impact on protein function have been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation (2x benign, 1x VUS). Based on the evidence outlined above, the variant was classified as benign.
Invitae RCV000467757 SCV000556117 benign Aortic aneurysm, familial thoracic 4 2017-12-30 criteria provided, single submitter clinical testing

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