ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.1255G>A (p.Gly419Arg) (rs863223827)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196313 SCV000250896 uncertain significance not provided 2015-11-05 criteria provided, single submitter clinical testing p.Gly419Arg (G419R) GGA>AGA: c.1255 G>A in exon 7 of the TGFBR1 gene (NM_004612.2) The G419R variant in the TGFBR1 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. The G419R 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. G419R is predicted to destroy the native splice donor site in intron 7 and is likely to result in aberrant gene 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 mutation or a rare benign variant. This variant was found in TGFBR1,TAAD

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