ClinVar Miner

Submissions for variant NM_007129.5(ZIC2):c.1074A>G (p.Thr358=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003003256 SCV003306097 uncertain significance Holoprosencephaly 5 2022-09-29 criteria provided, single submitter clinical testing This sequence change affects codon 358 of the ZIC2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ZIC2 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). 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 is not likely to affect RNA splicing. This variant has not been reported in the literature in individuals affected with ZIC2-related conditions.

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