ClinVar Miner

Submissions for variant NM_007129.5(ZIC2):c.1377_1406del (p.Ala461_Ala470del)

dbSNP: rs756225250
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV001843856 SCV002103039 uncertain significance Holoprosencephaly 5 2022-01-14 criteria provided, single submitter clinical testing
Invitae RCV001843856 SCV004275237 uncertain significance Holoprosencephaly 5 2023-04-01 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1343256). This variant has been observed in individuals with holoprosencephaly (PMID: 19177455, 21940735). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant, c.1377_1406del, results in the deletion of 10 amino acid(s) of the ZIC2 protein (p.Ala461_Ala470del), but otherwise preserves the integrity of the reading frame. This variant disrupts a region of the ZIC2 protein in which other variant(s) (p.Ala461_465del) have been observed in individuals with ZIC2-related conditions (PMID: 19955556). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. 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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