ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.1397-2A>G

dbSNP: rs587776770
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004700224 SCV005202093 likely pathogenic not provided 2023-07-18 criteria provided, single submitter clinical testing Canonical splice site variant in a gene or region of a gene for which loss of function is not a well-established mechanism of disease; Published RNA studies demonstrate that the variant induced the use of a cryptic splice acceptor and resulted in the in-frame insertion of a 30-bp intronic sequence within the kinase domain (Kosaki et al., 2006); Apparently de novo variant in a patient with ShprintzenGoldberg Syndrome and features including arachnodactyly, craniosynostosis, cardiovascular anomalies, pectus excavatum and scoliosis (Kosaki et al., 2006); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 19339519, 16333834)
OMIM RCV000013341 SCV000033588 pathogenic Loeys-Dietz syndrome 2 2006-01-01 no assertion criteria provided literature only

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