ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.1024A>G (p.Ile342Val)

gnomAD frequency: 0.00001  dbSNP: rs771132000
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000803045 SCV000942902 uncertain significance Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2022-03-13 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). ClinVar contains an entry for this variant (Variation ID: 648336). This variant has not been reported in the literature in individuals affected with GLI3-related conditions. This variant is present in population databases (rs771132000, gnomAD 0.002%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 342 of the GLI3 protein (p.Ile342Val).
Fulgent Genetics, Fulgent Genetics RCV002487707 SCV002796360 uncertain significance Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1 2022-02-03 criteria provided, single submitter clinical testing

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