ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.3963+6T>C

gnomAD frequency: 0.00004  dbSNP: rs373371913
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543624 SCV000641037 uncertain significance Aortic aneurysm, familial thoracic 4 2023-08-04 criteria provided, single submitter clinical testing This sequence change falls in intron 30 of the MYH11 gene. It does not directly change the encoded amino acid sequence of the MYH11 protein. It affects a nucleotide within the consensus splice site. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with MYH11-related conditions. ClinVar contains an entry for this variant (Variation ID: 465732). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659917 SCV000781821 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001191096 SCV001358791 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-12-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV001267629 SCV001445811 uncertain significance Inborn genetic diseases 2019-10-14 criteria provided, single submitter clinical testing
GeneDx RCV001569466 SCV001793549 likely benign not provided 2020-07-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001569466 SCV004565021 likely benign not provided 2023-04-03 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001191096 SCV004832344 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-08-28 criteria provided, single submitter clinical testing

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