ClinVar Miner

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

gnomAD frequency: 0.00078  dbSNP: rs111854563
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000588245 SCV000234910 likely benign not provided 2020-09-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23142374, 26017485, 27647783)
Invitae RCV001082621 SCV000556092 likely benign Aortic aneurysm, familial thoracic 4 2024-01-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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 RCV000157333 SCV000739212 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-05-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV000588245 SCV001249512 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing MYH11: PP3, BS1
Illumina Laboratory Services, 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 Diagnostics, LLC DBA Color Health RCV000157333 SCV001344866 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-10-24 criteria provided, single submitter clinical testing
Department of Vascular Biology, Beijing Anzhen Hospital RCV001374830 SCV001439579 uncertain significance Isolated thoracic aortic aneurysm 2018-09-01 criteria provided, single submitter research
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000588245 SCV004562768 likely benign not provided 2023-05-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003927518 SCV004746586 likely benign MYH11-related condition 2022-12-21 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
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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