ClinVar Miner

Submissions for variant NM_003412.4(ZIC1):c.992C>T (p.Pro331Leu)

dbSNP: rs2107994211
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001953100 SCV002218138 uncertain significance not provided 2021-08-27 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ZIC1-related conditions. This sequence change replaces proline with leucine at codon 331 of the ZIC1 protein (p.Pro331Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). 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. 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.

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