Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000599558 | SCV000709866 | pathogenic | not provided | 2017-11-20 | criteria provided, single submitter | clinical testing | The c.1840delG variant in the OFD1 gene has been reported previously in a female infant with a clinical diagnosis of oral-facial-digital syndrome type VI and clinical features including oral findings, left foot preaxial polydactyly, developmental delay, ataxia, epilepsy, and an abnormal brain MRI with ventriculomegaly and heterotopia (Darmency-Stamboul et al., 2013). The c.1840delG variant causes a frameshift starting with codon Alanine 614, changes this amino acid to a Histidine residue, and creates a premature Stop codon at position 15 of the new reading frame, denoted p.Ala614HisfsX15. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1840delG variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.1840delG as a pathogenic variant. |