ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn) (rs727504421)

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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 RCV000157520 SCV000207265 likely pathogenic Loeys-Dietz syndrome 2014-11-25 no assertion criteria provided clinical testing
GeneDx RCV000225734 SCV000250952 pathogenic not provided 2015-04-09 criteria provided, single submitter clinical testing p.Asp524Asn (D524N) GAC>AAC: c.1570 G>A in exon 7 of the TGFBR2 gene (NM_003242.5)The D524N mutation in the TGFBR2 gene has been reported previously in two unrelated individuals with Loeys-Dietz syndrome (Loeys B et al., 2006; Yetman A et al., 2007). D524N results in a semi-conservative amino acid substitution at a position that is conserved across species. A mutation in this residue (D524Y) and mutations in nearby residues (W521R, D522N, P525R, A527T, A527V) in association with a TAAD-related, further supporting the functional importance of this residues and region of the protein. Furthermore, the D524N 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.In summary, D524N in the TGFBR2 gene is interpreted as a disease-causing mutation. This variant was found in TAADV2-1

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