ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.342T>A (p.Thr114=)

dbSNP: rs371415976
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788270 SCV000927322 uncertain significance not provided 2017-06-30 criteria provided, single submitter clinical testing
Invitae RCV003106064 SCV003783935 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-11-23 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 636440). This variant has not been reported in the literature in individuals affected with TGFBR1-related conditions. 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 sequence change affects codon 114 of the TGFBR1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TGFBR1 protein. It affects a nucleotide within the consensus splice site.

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