Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000519400 | SCV000619837 | likely pathogenic | not provided | 2022-09-02 | criteria provided, single submitter | clinical testing | Observed in the heterozygous state in a patient with Harlequin ichthyosis (HI) from the published literature; however, this patient also harbored multiple variants in the ABCA12 gene which is a known cause of HI (Auriti et al., 2020); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function and may also impact gene splicing; however, in the absence of RNA/functional studies, the actual effect of this sequence change is unknown; This variant is associated with the following publications: (PMID: 16968736, 32293521) |