Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
3billion | RCV002251220 | SCV002521751 | uncertain significance | Holoprosencephaly 5 | 2022-05-22 | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.95; 3Cnet: 0.70). Same nucleotide change resulting in same amino acid change (PMID: 19177455) and different missense changes at the same codon (p.His286Gln, p.His286Leu; PMID: 19177455, 29992659) have been previously reported to be associated with ZIC2 related disorder. However the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as uncertain significanceaccording to the recommendation of ACMG/AMP guideline. |