ClinVar Miner

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

dbSNP: 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 2023-03-02 criteria provided, single submitter clinical testing 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; In silico analysis supports that this missense variant has a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge

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