ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.2374C>T (p.Arg792Ter) (rs121917714)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489344 SCV000577441 pathogenic not provided 2018-03-01 criteria provided, single submitter clinical testing The R792X pathogenic variant in the GLI3 gene has been reported previously in association with familial Greig cephalopolysyndactyly syndrome (Kalff-Suske et al.,1999) and isolated preaxial polydactyly type IV (Jamsheer et al., 2012). The R792X variant was not observed in approximately 6500 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 pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
OMIM RCV000014840 SCV000035095 pathogenic Greig cephalopolysyndactyly syndrome 2007-12-15 no assertion criteria provided literature only

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