ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.575G>A (p.Gly192Asp)

dbSNP: rs1564161224
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf RCV000766263 SCV000897683 likely pathogenic Ehlers-Danlos syndrome, classic type 2018-11-20 criteria provided, single submitter clinical testing
GeneDx RCV002473128 SCV002770335 uncertain significance not provided 2022-06-21 criteria provided, single submitter clinical testing Reported in an individual with a connective tissue disorder (Renner et al., 2019); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30675029)

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