ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4673C>T (p.Thr1558Met) (rs111854563)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000212723 SCV000234910 likely benign not specified 2017-12-01 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.
Invitae RCV001082621 SCV000556092 likely benign Aortic aneurysm, familial thoracic 4 2019-12-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588245 SCV000697648 benign not provided 2016-02-22 criteria provided, single submitter clinical testing Variant summary: This c.4694C>T variant affects a conserved nucleotide, resulting in amino acid change from Thr to Met. 3/4 in-silico tools predict this variant to be damaging; however they are not definite. This variant was found in 94/122406 control chromosomes at a frequency of 0.0007679, which is more than 613 times greater than the maximal expected frequency of a pathogenic allele (0.0000013) in this gene, suggesting this variant is benign. At least one clinical lab has classified this variant as likely benign. Taken together, this variant has been classified as Benign.
Ambry Genetics RCV000620825 SCV000739212 likely benign Cardiovascular phenotype 2018-05-08 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;Other data supporting benign classification
CeGaT Praxis fuer Humangenetik Tuebingen RCV000588245 SCV001249512 uncertain significance not provided 2020-01-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001082621 SCV001277601 benign Aortic aneurysm, familial thoracic 4 2017-09-14 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.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000157333 SCV001333420 benign Familial thoracic aortic aneurysm and aortic dissection 2018-10-30 criteria provided, single submitter clinical testing
Color RCV000157333 SCV001344866 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-10-24 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000157333 SCV000207070 likely benign Familial thoracic aortic aneurysm and aortic dissection 2014-11-03 no assertion criteria provided clinical testing

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