ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.797A>G (p.Asp266Gly) (rs863223819)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197559 SCV000250888 pathogenic not provided 2014-12-04 criteria provided, single submitter clinical testing p.Asp266Gly (GAC>GGC): c.797 A>G in exon 4 of the TGFBR1 gene (NM_004612.2) The D266G mutation in the TGFBR1 gene has been reported previously in one individual with a diagnosis of LDS (Sakai H et al., 2012). D266G results in a non-conservative amino acid substitution at a position that is highly conserved in vertebrates. A mutation in this residue (D266Y) and in a nearby residue (N267H) have been reported in association with LDS, further supporting the functional importance of this region of the protein. Furthermore, the D266G mutation was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant was found in TAADV2-1,TGFBR1

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