ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.633G>A (p.Thr211=)

dbSNP: rs765225250
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770695 SCV000902167 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-07-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001046440 SCV001210344 uncertain significance Aortic aneurysm, familial thoracic 4 2022-08-06 criteria provided, single submitter clinical testing This sequence change affects codon 211 of the MYH11 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MYH11 protein. This variant also falls at the last nucleotide of exon 5, which is part of the consensus splice site for this exon. This variant is present in population databases (rs765225250, gnomAD 0.003%). 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: 626890). 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 may disrupt the consensus splice site. 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.
GeneDx RCV003313145 SCV004012778 uncertain significance not provided 2023-01-10 criteria provided, single submitter clinical testing Reported in association with thoracic aortic aneurysm and dissection in published literature (Li et al., 2021); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis is inconclusive as to whether the variant alters gene splicing; in the absence of RNA/functional studies, the actual effect of this sequence change is unknown; This variant is associated with the following publications: (PMID: 34498425)

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