ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.973+1G>A (rs863223818)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196022 SCV000250887 uncertain significance not provided 2017-05-25 criteria provided, single submitter clinical testing The c.973+1 G>A splice site variant has not been reported as a pathogenic variant or as a benign polymorphism to our knowledge. This variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.973+1 G>A variant destroys the canonical splice donor site in intron 5 and is likely to result in aberrant splicing. In the absence of functional/mRNA studies, however, the in-vitro consequence of this variant cannot be precisely determined. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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