ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.3079C>T (p.Leu1027Phe) (rs746534141)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000634031 SCV000755309 uncertain significance Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2017-08-24 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 1027 of the GLI3 protein (p.Leu1027Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with GLI3-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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