ClinVar Miner

Submissions for variant NM_001374353.1(GLI2):c.4466A>G (p.Glu1489Gly)

gnomAD frequency: 0.00001  dbSNP: rs754008467
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001542383 SCV001761078 uncertain significance Holoprosencephaly 9 2020-07-14 criteria provided, single submitter clinical testing
GeneDx RCV004762158 SCV005372287 uncertain significance not provided 2023-06-12 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

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