ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.994_999del (p.Arg332_Asp333del)

dbSNP: rs727504383
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000154542 SCV000204214 uncertain significance not specified 2009-10-06 criteria provided, single submitter clinical testing
Invitae RCV003528143 SCV004296042 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-10-26 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 177890). This variant has been observed in individual(s) with clinical features of TGFBR1-related conditions (PMID: 24793577). This variant is not present in population databases (gnomAD no frequency). This variant, c.994_999del, results in the deletion of 2 amino acid(s) of the TGFBR1 protein (p.Arg332_Asp333del), but otherwise preserves the integrity of the reading frame.

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