ClinVar Miner

Submissions for variant NM_007129.5(ZIC2):c.553G>A (p.Gly185Ser)

gnomAD frequency: 0.00003  dbSNP: rs543003846
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001894533 SCV002127771 uncertain significance Holoprosencephaly 5 2021-07-05 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 185 of the ZIC2 protein (p.Gly185Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs543003846, ExAC 0.03%). 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 disruptive. This variant has not been reported in the literature in individuals affected with ZIC2-related conditions.

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