Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003508868 | SCV004296507 | uncertain significance | Holoprosencephaly 5 | 2024-01-06 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 37 of the ZIC2 protein (p.Asp37Asn). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with holoprosencephaly (PMID: 19177455). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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. |