ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.4597C>A (p.His1533Asn)

dbSNP: rs1787103191
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001211050 SCV001382572 uncertain significance Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2019-07-17 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with GLI3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with asparagine at codon 1533 of the GLI3 protein (p.His1533Asn). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and asparagine.
Fulgent Genetics, Fulgent Genetics RCV002491647 SCV002793589 uncertain significance Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1 2021-12-14 criteria provided, single submitter clinical testing

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