ClinVar Miner

Submissions for variant NM_007129.5(ZIC2):c.739A>G (p.Met247Val)

dbSNP: rs2053243222
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001817706 SCV002066924 uncertain significance not specified 2017-11-22 criteria provided, single submitter clinical testing
Invitae RCV001869782 SCV002160592 uncertain significance Holoprosencephaly 5 2021-09-15 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: "Possibly Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals affected with ZIC2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with valine at codon 247 of the ZIC2 protein (p.Met247Val). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and valine.

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