ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.2632del (p.Glu878fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Gemeinschaftspraxis fuer Humangenetik Dresden RCV002286458 SCV002576309 pathogenic Pallister-Hall syndrome 2022-09-24 criteria provided, single submitter clinical testing This variant is not reported in HGMD 2022.2, gnomAD (v2.1.1), dbSNP (v154) or LOVD. Mutations in GLI3 are known to be causal for Greig cephalopolysyndactyly syndrome (OMIM 175700), Pallister-Hall syndrome (OMIM 146510) and Polydactyly (OMIM 174200, 174700). Due to the protein truncating character the variant is classified as pathogenic.

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