ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.2678A>G (p.Asp893Gly)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002802477 SCV003585128 uncertain significance Inborn genetic diseases 2021-10-06 criteria provided, single submitter clinical testing The c.2678A>G (p.D893G) alteration is located in exon 15 (coding exon 14) of the GLI3 gene. This alteration results from a A to G substitution at nucleotide position 2678, causing the aspartic acid (D) at amino acid position 893 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004818262 SCV005439822 uncertain significance not provided 2024-06-21 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
Fulgent Genetics, Fulgent Genetics RCV005036550 SCV005668759 uncertain significance Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1 2024-06-22 criteria provided, single submitter clinical testing

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