ClinVar Miner

Submissions for variant NM_007129.5(ZIC2):c.1245T>G (p.His415Gln)

dbSNP: rs794729641
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Human Genetics, Children's Hospital of Philadelphia RCV000185543 SCV000238422 likely pathogenic Holoprosencephaly 5 2014-10-31 no assertion criteria provided research This heterozygous variant (c.1245T>G; p.His415Gln) in the ZIC2 gene is considered likely pathogenic because it is absent from the ExAC database at this time and has been previously seen in one patient in a Holoprosencephaly affected cohort by Roessler et al. 2009 (PMID: 19177455) and the computational information is suggestive of a pathogenic effect by its predicted effect on the 5th Zn finger, which is essential for ZIC2 function.

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