Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001955317 | SCV002215157 | uncertain significance | Holoprosencephaly 5 | 2021-07-03 | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 alanine with glycine at codon 228 of the ZIC2 protein (p.Ala228Gly). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and glycine. |
Ambry Genetics | RCV002561551 | SCV003632830 | uncertain significance | Inborn genetic diseases | 2022-07-21 | criteria provided, single submitter | clinical testing | The c.683C>G (p.A228G) alteration is located in exon 1 (coding exon 1) of the ZIC2 gene. This alteration results from a C to G substitution at nucleotide position 683, causing the alanine (A) at amino acid position 228 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |