ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4506C>T (p.Leu1502=) (rs76890940)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126952 SCV000170483 benign not specified 2013-12-19 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 RCV000617109 SCV000320484 benign Cardiovascular phenotype 2015-11-11 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
Illumina Clinical Services Laboratory,Illumina RCV000245430 SCV000395257 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001081210 SCV000556084 benign Aortic aneurysm, familial thoracic 4 2020-11-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589993 SCV000697646 benign not provided 2016-03-18 criteria provided, single submitter clinical testing Variant summary: The c.4527C>T variant affects a non-conserved nucleotide, resulting in no amino acid change. One in-silico tool predicts damaging outcome for this variant. 5/5 programs in Alamut predict that this variant does not affect normal splicing. ESE finder predicts that this variant does not affect any ESE site. This variant is found in 332/121398 control chromosomes (2 homozygotes) at a frequency of 0.0027348, which is about 2188 times of the maximal expected frequency of a pathogenic allele (0.0000013), suggesting this variant is benign. In addition, one clinical laboratory classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant was classified as benign.
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659920 SCV000781824 likely benign Connective tissue disease 2016-11-01 criteria provided, single submitter clinical testing
Color Health, Inc RCV000245430 SCV000902963 benign Familial thoracic aortic aneurysm and aortic dissection 2018-03-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001081210 SCV001279813 likely benign Aortic aneurysm, familial thoracic 4 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000245430 SCV001333421 benign Familial thoracic aortic aneurysm and aortic dissection 2019-01-11 criteria provided, single submitter clinical testing

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