ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.1846A>G (p.Lys616Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003338095 SCV004047008 uncertain significance Polydactyly, postaxial, type A1 criteria provided, single submitter clinical testing The missense variant in c.1846A>G (p.Lys616Glu) in GLI3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Lys616Glu variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant has not been reported to the ClinVar database. The amino acid Lys at position 616 is changed to a Glu changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted to be damaging by both SIFT and PolyPhen2. The amino acid change p.Lys616Glu in GLI3 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance (VUS).

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