ClinVar Miner

Submissions for variant NM_007129.5(ZIC2):c.914A>T (p.Glu305Val)

gnomAD frequency: 0.00001  dbSNP: rs897501049
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196246 SCV001366801 uncertain significance Holoprosencephaly 5 2019-07-26 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3.
CeGaT Center for Human Genetics Tuebingen RCV003405375 SCV004135097 uncertain significance not provided 2023-05-01 criteria provided, single submitter clinical testing ZIC2: PP2
Invitae RCV001196246 SCV004626340 uncertain significance Holoprosencephaly 5 2023-06-07 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 930518). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ZIC2 protein function. This variant has not been reported in the literature in individuals affected with ZIC2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 305 of the ZIC2 protein (p.Glu305Val).

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