ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.2447A>C (p.Asn816Thr)

gnomAD frequency: 0.00001  dbSNP: rs968591547
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002273650 SCV002558537 uncertain significance not provided 2022-02-01 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; Has not been previously published as pathogenic or benign to our knowledge; De novo variant with confirmed parentage; however, the reported clinical features are only partially consistent with the features typically observed in individuals with pathogenic variants in this gene
Fulgent Genetics, Fulgent Genetics RCV005042772 SCV005668771 uncertain significance Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1 2024-02-19 criteria provided, single submitter clinical testing

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